Linked Data
ClinVar Variation Id:
333172
ClinVar RCV Id:
RCV000396650
dbSNP Id:
rs886055361
gnomAD v2:
2-190437670-C-T
gnomAD v3:
2-189572944-C-T
gnomAD v4:
2-189572944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189572944C>T , CM000664.2:g.189572944C>T | GRCh38 |
| NC_000002.11:g.190437670C>T , CM000664.1:g.190437670C>T | GRCh37 |
| NC_000002.10:g.190145915C>T | NCBI36 |
| NG_009027.1:g.12868G>A , LRG_837:g.12868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.289G>A MANE Select | ENSP00000261024.3:p.Val97Met | |
| ENST00000261024.6:c.289G>A | ENSP00000261024.2:p.Val97Met | |
| ENST00000427241.5:c.289G>A | ENSP00000390005.1:p.Val97Met | |
| ENST00000479598.5:n.570G>A | ||
| NM_014585.5:c.289G>A , LRG_837t1:c.289G>A | NP_055400.1:p.Val97Met | |
| XM_005246505.1:c.169G>A | XP_005246562.1:p.Val57Met | |
| XM_005246505.2:c.169G>A | XP_005246562.1:p.Val57Met | |
| XM_017003938.2:c.169G>A | XP_016859427.1:p.Val57Met | |
| NM_014585.6:c.289G>A MANE Select | NP_055400.1:p.Val97Met |