Linked Data
ClinVar Variation Id:
2044654
ClinVar RCV Id:
RCV002900317
dbSNP Id:
rs375000063
ExAC:
21:38139542 G / A
gnomAD v2:
21-38139542-G-A
gnomAD v3:
21-36767241-G-A
gnomAD v4:
21-36767241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36767241G>A , CM000683.2:g.36767241G>A | GRCh38 |
| NC_000021.8:g.38139542G>A , CM000683.1:g.38139542G>A | GRCh37 |
| NC_000021.7:g.37061412G>A | NCBI36 |
| NG_016193.1:g.227995C>T | |
| NG_016193.2:g.228154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.1937C>T MANE Select | ENSP00000502087.2:p.Ala646Val | |
| ENST00000674895.2:c.1496C>T | ENSP00000502087.1:p.Ala499Val | |
| ENST00000675057.1:c.1496C>T | ENSP00000501832.1:p.Ala499Val | |
| ENST00000675307.1:c.1496C>T | ENSP00000501750.1:p.Ala499Val | |
| ENST00000336648.8:c.1496C>T | ENSP00000338387.3:p.Ala499Val | |
| ENST00000399120.5:c.1496C>T | ENSP00000382071.1:p.Ala499Val | |
| ENST00000612277.4:c.1496C>T | ENSP00000479939.1:p.Ala499Val | |
| NM_000411.6:c.1496C>T | NP_000402.3:p.Ala499Val | |
| NM_001242784.1:c.1496C>T | NP_001229713.1:p.Ala499Val | |
| NM_001242785.1:c.1496C>T | NP_001229714.1:p.Ala499Val | |
| XM_005260953.2:c.1937C>T | XP_005261010.1:p.Ala646Val | |
| XM_005260954.1:c.1937C>T | XP_005261011.1:p.Ala646Val | |
| XM_005260955.2:c.1496C>T | XP_005261012.1:p.Ala499Val | |
| XM_005260956.2:c.1496C>T | XP_005261013.1:p.Ala499Val | |
| XM_006723994.1:c.1496C>T | XP_006724057.1:p.Ala499Val | |
| XM_006723995.1:c.1496C>T | XP_006724058.1:p.Ala499Val | |
| XM_011529538.1:c.1496C>T | XP_011527840.1:p.Ala499Val | |
| XM_011529539.1:c.1496C>T | XP_011527841.1:p.Ala499Val | |
| XM_011529541.1:c.1496C>T | XP_011527843.1:p.Ala499Val | |
| NM_000411.7:c.1496C>T | NP_000402.3:p.Ala499Val | |
| NM_001242784.2:c.1496C>T | NP_001229713.1:p.Ala499Val | |
| NM_001242785.2:c.1496C>T | NP_001229714.1:p.Ala499Val | |
| NM_001352514.1:c.1937C>T | NP_001339443.1:p.Ala646Val | |
| NM_001352515.1:c.1496C>T | NP_001339444.1:p.Ala499Val | |
| NM_001352516.1:c.1496C>T | NP_001339445.1:p.Ala499Val | |
| NM_001352517.1:c.1496C>T | NP_001339446.1:p.Ala499Val | |
| NM_001352518.1:c.1496C>T | NP_001339447.1:p.Ala499Val | |
| NR_148020.1:n.1979C>T | ||
| NR_148021.1:n.1953C>T | ||
| XM_011529539.3:c.1496C>T | XP_011527841.1:p.Ala499Val | |
| XM_017028330.1:c.1496C>T | XP_016883819.1:p.Ala499Val | |
| XM_024452065.1:c.1325C>T | XP_024307833.1:p.Ala442Val | |
| XM_024452066.1:c.1325C>T | XP_024307834.1:p.Ala442Val | |
| XR_001754835.1:n.1938C>T | ||
| XR_001754836.1:n.1938C>T | ||
| XR_001754837.2:n.1938C>T | ||
| XR_001754840.1:n.1987C>T | ||
| NM_000411.8:c.1496C>T | NP_000402.3:p.Ala499Val | |
| NM_001242784.3:c.1496C>T | NP_001229713.1:p.Ala499Val | |
| NM_001352514.2:c.1937C>T MANE Select | NP_001339443.1:p.Ala646Val | |
| NM_001352515.2:c.1496C>T | NP_001339444.1:p.Ala499Val | |
| NM_001352516.2:c.1496C>T | NP_001339445.1:p.Ala499Val | |
| NR_148020.2:n.1796C>T | ||
| NM_001352518.2:c.1496C>T | NP_001339447.1:p.Ala499Val |