Linked Data
ClinVar Variation Id:
7025
ClinVar RCV Id:
RCV000007440
dbSNP Id:
rs104893936
ExAC:
5:176053473 C / T
gnomAD v2:
5-176053473-C-T
gnomAD v3:
5-176626472-C-T
gnomAD v4:
5-176626472-C-T
PubMed:
PMID:15365127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176626472C>T , CM000667.2:g.176626472C>T | GRCh38 |
| NC_000005.9:g.176053473C>T , CM000667.1:g.176053473C>T | GRCh37 |
| NC_000005.8:g.175986079C>T | NCBI36 |
| NG_012131.1:g.9085G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393693.7:c.208G>A MANE Select | ENSP00000377296.2:p.Val70Met | |
| ENST00000310112.7:c.208G>A | ENSP00000308057.3:p.Val70Met | |
| ENST00000393693.6:c.208G>A | ENSP00000377296.2:p.Val70Met | |
| ENST00000506696.1:c.208G>A | ENSP00000422223.1:p.Val70Met | |
| ENST00000508006.1:n.805G>A | ||
| ENST00000510387.5:c.208G>A | ENSP00000424073.1:p.Val70Met | |
| ENST00000614675.4:c.166G>A | ENSP00000479489.1:p.Val56Met | |
| NM_001001502.1:c.208G>A | NP_001001502.1:p.Val70Met | |
| NM_003085.3:c.208G>A | NP_003076.1:p.Val70Met | |
| XM_006714914.2:c.208G>A | XP_006714977.1:p.Val70Met | |
| XM_006714915.2:c.208G>A | XP_006714978.1:p.Val70Met | |
| XM_006714916.1:c.208G>A | XP_006714979.1:p.Val70Met | |
| XM_011534640.1:c.208G>A | XP_011532942.1:p.Val70Met | |
| NM_001001502.2:c.208G>A | NP_001001502.1:p.Val70Met | |
| NM_001318034.1:c.166G>A | NP_001304963.1:p.Val56Met | |
| NM_001318035.1:c.208G>A | NP_001304964.1:p.Val70Met | |
| NM_001318036.1:c.166G>A | NP_001304965.1:p.Val56Met | |
| NM_001318037.1:c.208G>A | NP_001304966.1:p.Val70Met | |
| NM_001363140.1:c.208G>A | NP_001350069.1:p.Val70Met | |
| NM_003085.4:c.208G>A | NP_003076.1:p.Val70Met | |
| XM_006714914.3:c.208G>A | XP_006714977.1:p.Val70Met | |
| XM_006714915.3:c.208G>A | XP_006714978.1:p.Val70Met | |
| XM_006714916.3:c.208G>A | XP_006714979.1:p.Val70Met | |
| XM_011534640.2:c.208G>A | XP_011532942.1:p.Val70Met | |
| NM_003085.5:c.208G>A MANE Select | NP_003076.1:p.Val70Met | |
| NM_001001502.3:c.208G>A | NP_001001502.1:p.Val70Met | |
| NM_001318035.2:c.208G>A | NP_001304964.1:p.Val70Met | |
| NM_001318036.2:c.166G>A | NP_001304965.1:p.Val56Met | |
| NM_001318037.2:c.208G>A | NP_001304966.1:p.Val70Met | |
| NM_001363140.2:c.208G>A | NP_001350069.1:p.Val70Met | |
| NM_001318034.2:c.166G>A | NP_001304963.1:p.Val56Met |