Linked Data
ClinVar Variation Id:
833559
dbSNP Id:
rs146801036
ExAC:
9:101304172 C / T
gnomAD v2:
9-101304172-C-T
gnomAD v3:
9-98541890-C-T
gnomAD v4:
9-98541890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541890C>T , CM000671.2:g.98541890C>T | GRCh38 |
| NC_000009.11:g.101304172C>T , CM000671.1:g.101304172C>T | GRCh37 |
| NC_000009.10:g.100343993C>T | NCBI36 |
| NG_016426.1:g.172308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.613G>A MANE Select | ENSP00000259455.2:p.Val205Ile | |
| ENST00000637410.1:n.391G>A | ||
| ENST00000637717.1:c.229G>A | ENSP00000490789.1:p.Val77Ile | |
| ENST00000259455.3:c.613G>A | ENSP00000259455.2:p.Val205Ile | |
| ENST00000477471.1:n.400G>A | ||
| ENST00000634227.1:n.387G>A | ||
| NM_005458.7:c.613G>A | NP_005449.5:p.Val205Ile | |
| XM_017015331.2:c.319G>A | XP_016870820.1:p.Val107Ile | |
| NM_005458.8:c.613G>A MANE Select | NP_005449.5:p.Val205Ile |