Linked Data
ClinVar Variation Id:
402454
ClinVar RCV Id:
RCV000454843
dbSNP Id:
rs17611
ExAC:
9:123769200 C / T
gnomAD v2:
9-123769200-C-T
gnomAD v3:
9-121006922-C-T
gnomAD v4:
9-121006922-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121006922C>T , CM000671.2:g.121006922C>T | GRCh38 |
| NC_000009.11:g.123769200C>T , CM000671.1:g.123769200C>T | GRCh37 |
| NC_000009.10:g.122809021C>T | NCBI36 |
| NG_007364.1:g.48355G>A , LRG_28:g.48355G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466280.2:c.1399G>A | ENSP00000513491.1:p.Val467Ile | |
| ENST00000696279.1:c.2724G>A | ||
| ENST00000696280.1:n.2493G>A | ||
| ENST00000696281.1:c.2422G>A | ENSP00000512521.1:p.Val808Ile | |
| ENST00000697921.1:n.1282G>A | ||
| ENST00000697922.1:c.*2394G>A | ENSP00000513478.1:n.*2394G>A | |
| ENST00000697923.1:n.3009G>A | ||
| ENST00000223642.3:c.2404G>A MANE Select | ENSP00000223642.1:p.Val802Ile | |
| ENST00000223642.2:c.2404G>A | ENSP00000223642.1:p.Val802Ile | |
| ENST00000466280.1:n.7G>A | ||
| NM_001735.2:c.2404G>A , LRG_28t1:c.2404G>A | NP_001726.2:p.Val802Ile | |
| XM_011518980.1:c.2419G>A | XP_011517282.1:p.Val807Ile | |
| XM_011518981.1:c.2422G>A | XP_011517283.1:p.Val808Ile | |
| NM_001317163.1:c.2422G>A | NP_001304092.1:p.Val808Ile | |
| NM_001317164.1:c.2404G>A | NP_001304093.1:p.Val802Ile | |
| NM_001317163.2:c.2422G>A | NP_001304092.1:p.Val808Ile | |
| NM_001317164.2:c.2404G>A | NP_001304093.1:p.Val802Ile | |
| NM_001735.3:c.2404G>A MANE Select | NP_001726.2:p.Val802Ile |