ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17772356C>T , CM000673.2:g.17772356C>T | GRCh38 |
| NC_000011.9:g.17793903C>T , CM000673.1:g.17793903C>T | GRCh37 |
| NC_000011.8:g.17750479C>T | NCBI36 |
| NG_041827.1:g.41409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265969.8:c.1262C>T MANE Select | ENSP00000265969.7:p.Ala421Val | |
| ENST00000379472.4:c.1262C>T | ENSP00000368785.3:p.Ala421Val | |
| ENST00000639325.2:c.1262C>T | ENSP00000492663.2:p.Ala421Val | |
| ENST00000639495.1:c.166C>T | ||
| ENST00000640153.1:n.790C>T | ||
| ENST00000640318.2:c.1262C>T | ENSP00000491189.2:p.Ala421Val | |
| ENST00000640909.2:c.1262C>T | ENSP00000491644.2:p.Ala421Val | |
| ENST00000675775.1:c.1262C>T | ENSP00000502716.1:p.Ala421Val | |
| ENST00000265969.6:c.1262C>T | ENSP00000265969.6:p.Ala421Val | |
| ENST00000379472.3:c.1262C>T | ENSP00000368785.3:p.Ala421Val | |
| NM_001112741.1:c.1262C>T | NP_001106212.1:p.Ala421Val | |
| NM_004976.4:c.1262C>T | NP_004967.1:p.Ala421Val | |
| XM_011520078.1:c.1262C>T | XP_011518380.1:p.Ala421Val | |
| XM_011520079.1:c.1262C>T | XP_011518381.1:p.Ala421Val | |
| XM_011520080.1:c.1262C>T | XP_011518382.1:p.Ala421Val | |
| XM_011520081.1:c.1262C>T | XP_011518383.1:p.Ala421Val | |
| XR_930866.1:n.1355C>T | ||
| XR_930866.2:n.2455C>T | ||
| NM_001112741.2:c.1262C>T MANE Select | NP_001106212.1:p.Ala421Val |