ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103188624C>A , CM000673.2:g.103188624C>A | GRCh38 |
| NC_000011.9:g.103059353C>A , CM000673.1:g.103059353C>A | GRCh37 |
| NC_000011.8:g.102564563C>A | NCBI36 |
| NG_016423.1:g.84194C>A | |
| NG_016423.2:g.84194C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.7268C>A MANE Plus Clinical | ENSP00000497174.1:p.Ser2423Tyr | |
| ENST00000375735.7:c.7268C>A MANE Select | ENSP00000364887.2:p.Ser2423Tyr | |
| ENST00000649323.1:c.*4813C>A | ENSP00000497581.1:n.*4813C>A | |
| ENST00000650373.1:c.7268C>A | ENSP00000497174.1:p.Ser2423Tyr | |
| ENST00000334267.11:c.2205+54205C>A | ENSP00000334021.7:n.2205+54205C>A | |
| ENST00000375735.6:c.7268C>A | ENSP00000364887.2:p.Ser2423Tyr | |
| ENST00000398093.7:c.7268C>A | ENSP00000381167.3:p.Ser2423Tyr | |
| NM_001080463.1:c.7268C>A | NP_001073932.1:p.Ser2423Tyr | |
| NM_001377.2:c.7268C>A | NP_001368.2:p.Ser2423Tyr | |
| XM_006718903.2:c.7268C>A | XP_006718966.1:p.Ser2423Tyr | |
| XM_017018291.1:c.7268C>A | XP_016873780.1:p.Ser2423Tyr | |
| XM_017018292.1:c.6650C>A | XP_016873781.1:p.Ser2217Tyr | |
| XM_017018293.1:c.7268C>A | XP_016873782.1:p.Ser2423Tyr | |
| NM_001377.3:c.7268C>A MANE Select | NP_001368.2:p.Ser2423Tyr | |
| NM_001080463.2:c.7268C>A MANE Plus Clinical | NP_001073932.1:p.Ser2423Tyr |