Revel Score:
ENST00000373823
0.532
ENST00000432226 (MANE Select)
0.532
ENST00000449773
0.532
ENST00000436847
0.532
ENST00000394353
0.532
ENST00000449733
0.532
ENST00000412819
0.532
ENST00000341272
0.532
ENST00000373808
0.532
ENST00000394352
0.532
ENST00000456109
0.532
ENST00000545652
0.532
ENST00000373818
0.532
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121310819G>A , CM000671.2:g.121310819G>A | GRCh38 |
| NC_000009.11:g.124073097G>A , CM000671.1:g.124073097G>A | GRCh37 |
| NC_000009.10:g.123112918G>A | NCBI36 |
| NG_012872.1:g.47718G>A | |
| NG_012872.2:g.114738G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699558.1:c.559G>A | ENSP00000514432.1:p.Asp187Asn | |
| ENST00000373808.8:c.520G>A | ENSP00000362914.3:p.Asp174Asn | |
| ENST00000432226.7:c.487G>A MANE Select | ENSP00000404226.2:p.Asp163Asn | |
| ENST00000449733.7:c.595G>A | ENSP00000409358.2:p.Asp199Asn | |
| ENST00000341272.6:c.487G>A | ENSP00000340888.2:p.Asp163Asn | |
| ENST00000373808.6:c.487G>A | ENSP00000362914.2:p.Asp163Asn | |
| ENST00000373818.8:c.640G>A | ENSP00000362924.4:p.Asp214Asn | |
| ENST00000373823.7:c.487G>A | ENSP00000362929.2:p.Asp163Asn | |
| ENST00000394353.7:c.538G>A | ENSP00000377882.3:p.Asp180Asn | |
| ENST00000412819.5:c.487G>A | ENSP00000416586.1:p.Asp163Asn | |
| ENST00000432226.5:c.487G>A | ENSP00000404226.1:p.Asp163Asn | |
| ENST00000436847.5:c.520G>A | ENSP00000411293.1:p.Asp174Asn | |
| ENST00000449733.5:c.595G>A | ENSP00000409358.2:p.Asp199Asn | |
| ENST00000449773.5:c.520G>A | ENSP00000410657.1:p.Asp174Asn | |
| ENST00000475428.6:n.660G>A | ||
| ENST00000477104.2:c.520G>A | ENSP00000489067.1:p.Asp174Asn | |
| ENST00000477863.5:n.553G>A | ||
| ENST00000483960.5:n.613-7916G>A | ||
| ENST00000485767.1:n.2449G>A | ||
| ENST00000545652.6:c.511G>A | ENSP00000445823.1:p.Asp171Asn | |
| NM_000177.4:c.640G>A | NP_000168.1:p.Asp214Asn | |
| NM_001127662.1:c.487G>A | NP_001121134.1:p.Asp163Asn | |
| NM_001127663.1:c.595G>A | NP_001121135.2:p.Asp199Asn | |
| NM_001127664.1:c.487G>A | NP_001121136.1:p.Asp163Asn | |
| NM_001127665.1:c.487G>A | NP_001121137.1:p.Asp163Asn | |
| NM_001127666.1:c.520G>A | NP_001121138.1:p.Asp174Asn | |
| NM_001127667.1:c.520G>A | NP_001121139.1:p.Asp174Asn | |
| NM_001258029.1:c.538G>A | NP_001244958.1:p.Asp180Asn | |
| NM_001258030.1:c.511G>A | NP_001244959.1:p.Asp171Asn | |
| NM_198252.2:c.487G>A | NP_937895.1:p.Asp163Asn | |
| XM_005251940.2:c.550G>A | XP_005251997.1:p.Asp184Asn | |
| XM_005251943.1:c.520G>A | XP_005252000.1:p.Asp174Asn | |
| XM_005251944.1:c.520G>A | XP_005252001.1:p.Asp174Asn | |
| XM_005251945.3:c.487G>A | XP_005252002.1:p.Asp163Asn | |
| XM_006717075.2:c.679G>A | XP_006717138.2:p.Asp227Asn | |
| XM_006717079.1:c.520G>A | XP_006717142.1:p.Asp174Asn | |
| XM_011518584.1:c.634G>A | XP_011516886.1:p.Asp212Asn | |
| XM_011518585.1:c.577G>A | XP_011516887.1:p.Asp193Asn | |
| XM_011518586.1:c.520G>A | XP_011516888.1:p.Asp174Asn | |
| XM_011518587.1:c.520G>A | XP_011516889.1:p.Asp174Asn | |
| XM_011518588.1:c.520G>A | XP_011516890.1:p.Asp174Asn | |
| XM_011518589.1:c.520G>A | XP_011516891.1:p.Asp174Asn | |
| XM_011518590.1:c.520G>A | XP_011516892.1:p.Asp174Asn | |
| XM_011518591.1:c.487G>A | XP_011516893.1:p.Asp163Asn | |
| XM_011518592.1:c.487G>A | XP_011516894.1:p.Asp163Asn | |
| XM_011518593.1:c.487G>A | XP_011516895.1:p.Asp163Asn | |
| NM_001353053.1:c.487G>A | NP_001339982.1:p.Asp163Asn | |
| NM_001353054.1:c.487G>A | NP_001339983.1:p.Asp163Asn | |
| NM_001353055.1:c.487G>A | NP_001339984.1:p.Asp163Asn | |
| NM_001353056.1:c.487G>A | NP_001339985.1:p.Asp163Asn | |
| NM_001353057.1:c.487G>A | NP_001339986.1:p.Asp163Asn | |
| NM_001353058.1:c.487G>A | NP_001339987.1:p.Asp163Asn | |
| NM_001353059.1:c.487G>A | NP_001339988.1:p.Asp163Asn | |
| NM_001353060.1:c.487G>A | NP_001339989.1:p.Asp163Asn | |
| NM_001353061.1:c.487G>A | NP_001339990.1:p.Asp163Asn | |
| NM_001353062.1:c.487G>A | NP_001339991.1:p.Asp163Asn | |
| NM_001353063.1:c.520G>A | NP_001339992.1:p.Asp174Asn | |
| NM_001353064.1:c.520G>A | NP_001339993.1:p.Asp174Asn | |
| NM_001353065.1:c.520G>A | NP_001339994.1:p.Asp174Asn | |
| NM_001353066.1:c.520G>A | NP_001339995.1:p.Asp174Asn | |
| NM_001353067.1:c.520G>A | NP_001339996.1:p.Asp174Asn | |
| NM_001353068.1:c.520G>A | NP_001339997.1:p.Asp174Asn | |
| NM_001353069.1:c.520G>A | NP_001339998.1:p.Asp174Asn | |
| NM_001353070.1:c.520G>A | NP_001339999.1:p.Asp174Asn | |
| NM_001353071.1:c.520G>A | NP_001340000.1:p.Asp174Asn | |
| NM_001353072.1:c.520G>A | NP_001340001.1:p.Asp174Asn | |
| NM_001353073.1:c.520G>A | NP_001340002.1:p.Asp174Asn | |
| NM_001353074.1:c.520G>A | NP_001340003.1:p.Asp174Asn | |
| NM_001353075.1:c.520G>A | NP_001340004.1:p.Asp174Asn | |
| NM_001353076.1:c.559G>A | NP_001340005.1:p.Asp187Asn | |
| NM_001353077.1:c.520G>A | NP_001340006.1:p.Asp174Asn | |
| NM_001353078.1:c.-168G>A | NP_001340007.1:n.-168G>A | |
| XM_017014645.1:c.550G>A | XP_016870134.1:p.Asp184Asn | |
| XM_017014648.1:c.520G>A | XP_016870137.1:p.Asp174Asn | |
| XM_024447522.1:c.634G>A | XP_024303290.1:p.Asp212Asn | |
| XM_024447523.1:c.487G>A | XP_024303291.1:p.Asp163Asn | |
| XM_024447524.1:c.487G>A | XP_024303292.1:p.Asp163Asn | |
| XR_001746283.2:n.672G>A | ||
| NM_000177.5:c.640G>A | NP_000168.1:p.Asp214Asn | |
| NM_001127662.2:c.487G>A | NP_001121134.1:p.Asp163Asn | |
| NM_001127663.2:c.595G>A | NP_001121135.2:p.Asp199Asn | |
| NM_001127664.2:c.487G>A | NP_001121136.1:p.Asp163Asn | |
| NM_001127665.2:c.487G>A | NP_001121137.1:p.Asp163Asn | |
| NM_001127666.2:c.520G>A | NP_001121138.1:p.Asp174Asn | |
| NM_001127667.2:c.520G>A | NP_001121139.1:p.Asp174Asn | |
| NM_001258029.2:c.538G>A | NP_001244958.1:p.Asp180Asn | |
| NM_001258030.2:c.511G>A | NP_001244959.1:p.Asp171Asn | |
| NM_001353055.2:c.487G>A | NP_001339984.1:p.Asp163Asn | |
| NM_001353056.2:c.487G>A | NP_001339985.1:p.Asp163Asn | |
| NM_001353057.2:c.487G>A | NP_001339986.1:p.Asp163Asn | |
| NM_001353058.2:c.487G>A | NP_001339987.1:p.Asp163Asn | |
| NM_001353059.2:c.487G>A | NP_001339988.1:p.Asp163Asn | |
| NM_001353060.2:c.487G>A | NP_001339989.1:p.Asp163Asn | |
| NM_001353061.2:c.487G>A | NP_001339990.1:p.Asp163Asn | |
| NM_001353063.2:c.520G>A | NP_001339992.1:p.Asp174Asn | |
| NM_001353064.2:c.520G>A | NP_001339993.1:p.Asp174Asn | |
| NM_001353065.2:c.520G>A | NP_001339994.1:p.Asp174Asn | |
| NM_001353066.2:c.520G>A | NP_001339995.1:p.Asp174Asn | |
| NM_001353067.2:c.520G>A | NP_001339996.1:p.Asp174Asn | |
| NM_001353068.2:c.520G>A | NP_001339997.1:p.Asp174Asn | |
| NM_001353069.2:c.520G>A | NP_001339998.1:p.Asp174Asn | |
| NM_001353070.2:c.520G>A | NP_001339999.1:p.Asp174Asn | |
| NM_001353071.2:c.520G>A | NP_001340000.1:p.Asp174Asn | |
| NM_001353072.2:c.520G>A | NP_001340001.1:p.Asp174Asn | |
| NM_001353073.2:c.520G>A | NP_001340002.1:p.Asp174Asn | |
| NM_001353074.2:c.520G>A | NP_001340003.1:p.Asp174Asn | |
| NM_001353076.2:c.559G>A | NP_001340005.1:p.Asp187Asn | |
| NM_001353078.2:c.-168G>A | NP_001340007.1:n.-168G>A | |
| NM_198252.3:c.487G>A MANE Select | NP_937895.1:p.Asp163Asn |