Linked Data
ClinVar Variation Id:
2403303
dbSNP Id:
rs151145884
ExAC:
2:44104924 G / A
gnomAD v2:
2-44104924-G-A
gnomAD v3:
2-43877785-G-A
gnomAD v4:
2-43877785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877785G>A , CM000664.2:g.43877785G>A | GRCh38 |
| NC_000002.11:g.44104924G>A , CM000664.1:g.44104924G>A | GRCh37 |
| NC_000002.10:g.43958428G>A | NCBI36 |
| NG_008884.1:g.43822G>A | |
| NG_008884.2:g.50844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1894G>A MANE Select | ENSP00000272286.2:p.Val632Ile | |
| ENST00000272286.2:c.1894G>A | ENSP00000272286.2:p.Val632Ile | |
| NM_022437.2:c.1894G>A | NP_071882.1:p.Val632Ile | |
| XM_005264483.2:c.1891G>A | XP_005264540.1:p.Val631Ile | |
| XM_011533029.1:c.1906G>A | XP_011531331.1:p.Val636Ile | |
| XM_011533030.1:c.1903G>A | XP_011531332.1:p.Val635Ile | |
| XM_011533031.1:c.1678G>A | XP_011531333.1:p.Val560Ile | |
| XR_939707.1:n.2396G>A | ||
| NM_001357321.1:c.1891G>A | NP_001344250.1:p.Val631Ile | |
| XM_011533029.2:c.1906G>A | XP_011531331.1:p.Val636Ile | |
| XM_011533030.2:c.1903G>A | XP_011531332.1:p.Val635Ile | |
| XR_001738891.1:n.2410G>A | ||
| XR_939707.2:n.2410G>A | ||
| NM_022437.3:c.1894G>A MANE Select | NP_071882.1:p.Val632Ile | |
| NM_001357321.2:c.1891G>A | NP_001344250.1:p.Val631Ile |