Linked Data
dbSNP Id:
rs1686973905
COSMIC:
COSM310264
MyVariant Identifiers:
chr2:g.189963483T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098757T>A , CM000664.2:g.189098757T>A | GRCh38 |
| NC_000002.11:g.189963483T>A , CM000664.1:g.189963483T>A | GRCh37 |
| NC_000002.10:g.189671728T>A | NCBI36 |
| NG_011799.1:g.86123A>T | |
| NG_011799.2:g.86123A>T | |
| NG_011799.3:g.131545A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.372A>T MANE Select | ENSP00000364000.3:p.Val124= | |
| ENST00000649966.1:c.234A>T | ENSP00000496785.1:p.Val78= | |
| ENST00000374866.7:c.372A>T | ENSP00000364000.3:p.Val124= | |
| ENST00000618828.1:c.-259A>T | ENSP00000482184.1:n.-259A>T | |
| NM_000393.3:c.372A>T | NP_000384.2:p.Val124= | |
| XM_011510573.1:c.234A>T | XP_011508875.1:p.Val78= | |
| NM_000393.4:c.372A>T | NP_000384.2:p.Val124= | |
| XM_011510573.3:c.234A>T | XP_011508875.1:p.Val78= | |
| NM_000393.5:c.372A>T MANE Select | NP_000384.2:p.Val124= |