Linked Data
ClinVar Variation Id:
1663567
ClinVar RCV Id:
RCV002181529
dbSNP Id:
rs370898043
ExAC:
4:493298 G / C
gnomAD v4:
4-499509-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.499509G>C , CM000666.2:g.499509G>C | GRCh38 |
| NC_000004.11:g.493298G>C , CM000666.1:g.493298G>C | GRCh37 |
| NC_000004.10:g.483298G>C | NCBI36 |
| NG_051621.1:g.5310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453061.7:c.154+20G>C MANE Select | ENSP00000415203.2:n.154+20G>C | |
| ENST00000310340.9:c.154+20G>C | ENSP00000311750.5:n.154+20G>C | |
| ENST00000383028.8:c.154+20G>C | ENSP00000372494.4:n.154+20G>C | |
| ENST00000453061.6:c.154+20G>C | ENSP00000415203.2:n.154+20G>C | |
| ENST00000502311.1:n.250+20G>C | ||
| ENST00000503111.5:c.-330G>C | ENSP00000426002.1:n.-330G>C | |
| ENST00000504187.5:c.154+20G>C | ENSP00000427069.1:n.154+20G>C | |
| ENST00000504346.5:c.-114+211G>C | ENSP00000424800.1:n.-114+211G>C | |
| ENST00000506402.5:c.154+20G>C | ENSP00000424619.1:n.154+20G>C | |
| ENST00000509768.1:c.-652G>C | ENSP00000421550.1:n.-652G>C | |
| ENST00000511448.5:c.154+20G>C | ENSP00000423596.1:n.154+20G>C | |
| ENST00000514953.1:n.156G>C | ||
| NM_001127178.2:c.154+20G>C | NP_001120650.1:n.154+20G>C | |
| NM_001289051.1:c.-114+211G>C | NP_001275980.1:n.-114+211G>C | |
| NM_001289052.1:c.154+20G>C | NP_001275981.1:n.154+20G>C | |
| NM_001289053.1:c.-652G>C | NP_001275982.1:n.-652G>C | |
| NM_001289055.1:c.-283+20G>C | NP_001275984.1:n.-283+20G>C | |
| NM_001289057.1:c.-330G>C | NP_001275986.1:n.-330G>C | |
| NM_017733.4:c.154+20G>C | NP_060203.3:n.154+20G>C | |
| NR_110293.1:n.290+20G>C | ||
| XM_005272283.2:c.154+20G>C | XP_005272340.1:n.154+20G>C | |
| XM_005272284.2:c.-330G>C | XP_005272341.1:n.-330G>C | |
| XM_005272288.3:c.154+20G>C | XP_005272345.1:n.154+20G>C | |
| XM_005272289.2:c.154+20G>C | XP_005272346.1:n.154+20G>C | |
| XM_011513490.1:c.154+20G>C | XP_011511792.1:n.154+20G>C | |
| XM_011513491.1:c.-283+20G>C | XP_011511793.1:n.-283+20G>C | |
| XM_011513493.1:c.154+20G>C | XP_011511795.1:n.154+20G>C | |
| XM_011513494.1:c.154+20G>C | XP_011511796.1:n.154+20G>C | |
| XR_924963.1:n.290+20G>C | ||
| XR_924965.1:n.290+20G>C | ||
| XR_924966.1:n.290+20G>C | ||
| XR_924967.1:n.290+20G>C | ||
| XR_924968.1:n.290+20G>C | ||
| XR_924969.1:n.290+20G>C | ||
| XR_924971.1:n.290+20G>C | ||
| XR_924972.1:n.290+20G>C | ||
| NM_001345986.1:c.-330G>C | NP_001332915.1:n.-330G>C | |
| NM_001345987.1:c.-330G>C | NP_001332916.1:n.-330G>C | |
| NM_001345988.1:c.-950G>C | NP_001332917.1:n.-950G>C | |
| NM_001345989.1:c.154+20G>C | NP_001332918.1:n.154+20G>C | |
| NM_001345990.1:c.-1472+20G>C | NP_001332919.1:n.-1472+20G>C | |
| NM_001345991.1:c.-1550G>C | NP_001332920.1:n.-1550G>C | |
| NM_001345994.1:c.-1275G>C | NP_001332923.1:n.-1275G>C | |
| NR_144326.1:n.310G>C | ||
| NR_144327.1:n.290+20G>C | ||
| NR_144328.1:n.290+20G>C | ||
| NR_144329.1:n.310G>C | ||
| NR_144330.1:n.290+20G>C | ||
| NR_144331.1:n.310G>C | ||
| NR_144332.1:n.290+20G>C | ||
| NR_144333.1:n.290+20G>C | ||
| NR_144334.1:n.310G>C | ||
| XM_011513490.3:c.154+20G>C | XP_011511792.1:n.154+20G>C | |
| XM_011513491.2:c.-283+20G>C | XP_011511793.1:n.-283+20G>C | |
| XM_011513494.3:c.154+20G>C | XP_011511796.1:n.154+20G>C | |
| XR_001741248.2:n.266+20G>C | ||
| XR_001741251.2:n.266+20G>C | ||
| XR_001741253.2:n.266+20G>C | ||
| XR_001741254.2:n.266+20G>C | ||
| XR_001741255.2:n.266+20G>C | ||
| XR_001741258.2:n.266+20G>C | ||
| XR_001741259.2:n.266+20G>C | ||
| XR_001741261.2:n.266+20G>C | ||
| XR_001741262.2:n.266+20G>C | ||
| XR_002959736.1:n.266+20G>C | ||
| XR_002959737.1:n.266+20G>C | ||
| XR_002959738.1:n.266+20G>C | ||
| XR_924965.3:n.266+20G>C | ||
| XR_924967.3:n.266+20G>C | ||
| XR_924969.3:n.266+20G>C | ||
| XR_924972.3:n.266+20G>C | ||
| NM_001127178.3:c.154+20G>C MANE Select | NP_001120650.1:n.154+20G>C | |
| NM_001345989.2:c.154+20G>C | NP_001332918.1:n.154+20G>C | |
| NM_001289051.2:c.-114+211G>C | NP_001275980.1:n.-114+211G>C | |
| NM_001289052.2:c.154+20G>C | NP_001275981.1:n.154+20G>C | |
| NM_001289053.2:c.-652G>C | NP_001275982.1:n.-652G>C | |
| NM_001289055.2:c.-283+20G>C | NP_001275984.1:n.-283+20G>C | |
| NM_001289057.2:c.-330G>C | NP_001275986.1:n.-330G>C | |
| NM_001345986.2:c.-330G>C | NP_001332915.1:n.-330G>C | |
| NM_001345987.2:c.-330G>C | NP_001332916.1:n.-330G>C | |
| NM_001345988.2:c.-950G>C | NP_001332917.1:n.-950G>C | |
| NM_001345990.2:c.-1472+20G>C | NP_001332919.1:n.-1472+20G>C | |
| NM_001345991.2:c.-1550G>C | NP_001332920.1:n.-1550G>C | |
| NM_001345994.2:c.-1275G>C | NP_001332923.1:n.-1275G>C | |
| NM_017733.5:c.154+20G>C | NP_060203.3:n.154+20G>C | |
| NR_110293.2:n.280+20G>C | ||
| NR_144326.2:n.300G>C | ||
| NR_144327.2:n.280+20G>C | ||
| NR_144328.2:n.280+20G>C | ||
| NR_144329.2:n.300G>C | ||
| NR_144330.2:n.280+20G>C | ||
| NR_144331.2:n.300G>C | ||
| NR_144332.2:n.280+20G>C | ||
| NR_144333.2:n.280+20G>C | ||
| NR_144334.2:n.300G>C |