Linked Data
ClinVar Variation Id:
3059081
ClinVar RCV Id:
RCV003979678
dbSNP Id:
rs17436816
ExAC:
1:6204161 G / A
gnomAD v2:
1-6204161-G-A
gnomAD v3:
1-6144101-G-A
gnomAD v4:
1-6144101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6144101G>A , CM000663.2:g.6144101G>A | GRCh38 |
| NC_000001.10:g.6204161G>A , CM000663.1:g.6204161G>A | GRCh37 |
| NC_000001.9:g.6126748G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262450.8:c.1857C>T MANE Select | ENSP00000262450.3:p.Tyr619= | |
| ENST00000262450.7:c.1857C>T | ENSP00000262450.3:p.Tyr619= | |
| ENST00000462991.5:c.4C>T | ||
| ENST00000496404.1:c.1857C>T | ENSP00000433676.1:p.Tyr619= | |
| NM_015557.2:c.1857C>T | NP_056372.1:p.Tyr619= | |
| NM_015557.3:c.1857C>T MANE Select | NP_056372.1:p.Tyr619= |