Linked Data
ClinVar Variation Id:
3127404
ClinVar RCV Id:
RCV004424757
dbSNP Id:
rs752541021
ExAC:
9:97843043 G / A
gnomAD v2:
9-97843043-G-A
gnomAD v3:
9-95080761-G-A
gnomAD v4:
9-95080761-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95080761G>A , CM000671.2:g.95080761G>A | GRCh38 |
| NC_000009.11:g.97843043G>A , CM000671.1:g.97843043G>A | GRCh37 |
| NC_000009.10:g.96882864G>A | NCBI36 |
| NG_027833.1:g.359093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445181.6:n.393G>A | ||
| ENST00000478473.2:n.381G>A | ||
| ENST00000710812.1:n.391G>A | ||
| ENST00000375315.8:c.2300G>A MANE Select | ENSP00000364464.2:p.Arg767Lys | |
| ENST00000375315.7:c.2300G>A | ENSP00000364464.2:p.Arg767Lys | |
| ENST00000297979.9:c.2003G>A | ENSP00000297979.5:p.Arg668Lys | |
| ENST00000375315.6:c.2300G>A | ENSP00000364464.2:p.Arg767Lys | |
| ENST00000424143.5:c.1472G>A | ENSP00000402171.1:p.Arg491Lys | |
| ENST00000428313.5:c.1646G>A | ENSP00000401854.1:p.Arg549Lys | |
| ENST00000445181.5:c.393G>A | ||
| ENST00000463372.5:n.384G>A | ||
| ENST00000468164.1:n.448G>A | ||
| ENST00000471978.5:n.409G>A | ||
| ENST00000478473.1:c.381G>A | ||
| ENST00000479161.5:n.905G>A | ||
| ENST00000489562.5:n.473G>A | ||
| NM_001193329.1:c.2300G>A | NP_001180258.1:p.Arg767Lys | |
| NM_032823.5:c.2003G>A | NP_116212.3:p.Arg668Lys | |
| XM_005252284.1:c.2003G>A | XP_005252341.1:p.Arg668Lys | |
| XM_006717306.1:c.2300G>A | XP_006717369.1:p.Arg767Lys | |
| XM_011519119.1:c.2300G>A | XP_011517421.1:p.Arg767Lys | |
| XM_011519120.1:c.2183G>A | XP_011517422.1:p.Arg728Lys | |
| XM_011519121.1:c.2300G>A | XP_011517423.1:p.Arg767Lys | |
| XM_011519128.1:c.1409G>A | XP_011517430.1:p.Arg470Lys | |
| XM_011519132.1:c.1160G>A | XP_011517434.1:p.Arg387Lys | |
| XR_929852.1:n.2583G>A | ||
| XR_929853.1:n.2583G>A | ||
| XR_929854.1:n.2583G>A | ||
| XM_005252284.3:c.2003G>A | XP_005252341.1:p.Arg668Lys | |
| XM_006717306.2:c.2300G>A | XP_006717369.1:p.Arg767Lys | |
| XM_011519119.2:c.2300G>A | XP_011517421.1:p.Arg767Lys | |
| XM_011519120.3:c.2183G>A | XP_011517422.1:p.Arg728Lys | |
| XM_011519121.3:c.2300G>A | XP_011517423.1:p.Arg767Lys | |
| XM_017015229.1:c.2300G>A | XP_016870718.1:p.Arg767Lys | |
| XM_017015230.2:c.2300G>A | XP_016870719.1:p.Arg767Lys | |
| XM_017015231.2:c.2003G>A | XP_016870720.1:p.Arg668Lys | |
| XM_017015233.1:c.1430G>A | XP_016870722.1:p.Arg477Lys | |
| XM_017015234.2:c.1409G>A | XP_016870723.1:p.Arg470Lys | |
| XM_017015235.2:c.1409G>A | XP_016870724.1:p.Arg470Lys | |
| XM_017015236.2:c.1112G>A | XP_016870725.1:p.Arg371Lys | |
| XM_017015237.2:c.1112G>A | XP_016870726.1:p.Arg371Lys | |
| XR_001746402.2:n.2518G>A | ||
| XR_001746403.2:n.2177G>A | ||
| XR_001746404.2:n.2177G>A | ||
| XR_929852.2:n.2518G>A | ||
| XR_929853.2:n.2518G>A | ||
| XR_929854.2:n.2518G>A | ||
| XR_929856.3:n.3302G>A | ||
| NM_001193329.3:c.2300G>A MANE Select | NP_001180258.1:p.Arg767Lys | |
| NM_001386061.1:c.1010G>A | NP_001372990.1:p.Arg337Lys | |
| NM_001386062.2:c.1979G>A | NP_001372991.1:p.Arg660Lys | |
| NM_001386063.2:c.2162G>A | NP_001372992.1:p.Arg721Lys | |
| NM_001386066.1:c.2300G>A | NP_001372995.1:p.Arg767Lys | |
| NM_001386067.1:c.1778G>A | NP_001372996.1:p.Arg593Lys | |
| NM_001386068.1:c.2300G>A | NP_001372997.1:p.Arg767Lys | |
| NM_001386069.1:c.2003G>A | NP_001372998.1:p.Arg668Lys | |
| NM_001386070.1:c.2183G>A | NP_001372999.1:p.Arg728Lys | |
| NM_001386074.1:c.2300G>A | NP_001373003.1:p.Arg767Lys | |
| NM_001386075.1:c.2300G>A | NP_001373004.1:p.Arg767Lys | |
| NM_032823.6:c.2003G>A | NP_116212.3:p.Arg668Lys | |
| NR_169862.1:n.2381G>A | ||
| NR_169863.2:n.2147G>A | ||
| NR_169864.1:n.2147G>A | ||
| NR_169865.1:n.2277G>A | ||
| NR_169866.1:n.1980G>A | ||
| NR_169867.1:n.913G>A |