Linked Data
dbSNP Id:
rs1447847839
gnomAD v3:
2-169154597-G-T
gnomAD v4:
2-169154597-G-T
COSMIC:
COSM1401029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154597G>T , CM000664.2:g.169154597G>T | GRCh38 |
| NC_000002.11:g.170011107G>T , CM000664.1:g.170011107G>T | GRCh37 |
| NC_000002.10:g.169719353G>T | NCBI36 |
| NG_012634.1:g.213016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12158C>A MANE Select | ENSP00000496870.1:p.Ser4053Tyr | |
| ENST00000649153.1:c.3058C>A | ||
| ENST00000650252.1:c.1186C>A | ENSP00000496887.1:p.Leu396Ile | |
| ENST00000263816.7:c.12158C>A | ENSP00000263816.3:p.Ser4053Tyr | |
| NM_004525.2:c.12158C>A | NP_004516.2:p.Ser4053Tyr | |
| XM_011511183.1:c.12029C>A | XP_011509485.1:p.Ser4010Tyr | |
| XM_011511184.1:c.9869C>A | XP_011509486.1:p.Ser3290Tyr | |
| NM_004525.3:c.12158C>A MANE Select | NP_004516.2:p.Ser4053Tyr | |
| XM_011511183.3:c.12029C>A | XP_011509485.1:p.Ser4010Tyr | |
| XM_011511184.2:c.9869C>A | XP_011509486.1:p.Ser3290Tyr |