Linked Data
ClinVar Variation Id:
29664
ClinVar RCV Id:
RCV000022513
dbSNP Id:
rs387906613
PubMed:
PMID:20818502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758986C>T , CM000663.2:g.147758986C>T | GRCh38 |
| NC_000001.10:g.147231094C>T , CM000663.1:g.147231094C>T | GRCh37 |
| NC_000001.9:g.145697718C>T | NCBI36 |
| NG_009369.2:g.19389G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579774.3:c.253G>A MANE Select | ENSP00000463851.1:p.Val85Ile | |
| ENST00000430508.1:c.253G>A | ENSP00000407645.1:p.Val85Ile | |
| ENST00000579774.2:c.253G>A | ENSP00000463851.1:p.Val85Ile | |
| ENST00000621517.1:c.253G>A | ENSP00000484552.1:p.Val85Ile | |
| NM_005266.6:c.253G>A | NP_005257.2:p.Val85Ile | |
| NM_181703.3:c.253G>A | NP_859054.1:p.Val85Ile | |
| XM_005272951.3:c.253G>A | XP_005273008.1:p.Val85Ile | |
| XM_011509415.1:c.253G>A | XP_011507717.1:p.Val85Ile | |
| XR_922078.1:n.434-18575C>T | ||
| XR_922079.1:n.434-18575C>T | ||
| XM_005272951.4:c.253G>A | XP_005273008.1:p.Val85Ile | |
| XM_017001044.1:c.253G>A | XP_016856533.1:p.Val85Ile | |
| XR_922079.3:n.744-18575C>T | ||
| NM_181703.4:c.253G>A MANE Select | NP_859054.1:p.Val85Ile | |
| NM_005266.7:c.253G>A | NP_005257.2:p.Val85Ile |