Linked Data
dbSNP Id:
rs1461513371
gnomAD v2:
X-140983322-C-T
gnomAD v3:
X-141895536-C-T
gnomAD v4:
X-141895536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895536C>T , CM000685.2:g.141895536C>T | GRCh38 |
| NC_000023.10:g.140983322C>T , CM000685.1:g.140983322C>T | GRCh37 |
| NC_000023.9:g.140810988C>T | NCBI36 |
| NG_013272.1:g.62221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1100C>T MANE Select | ENSP00000298296.1:p.Ser367Phe | |
| ENST00000443323.2:c.-118-895C>T | ENSP00000438254.1:n.-118-895C>T | |
| ENST00000483584.5:n.288+129C>T | ||
| ENST00000544766.5:c.-240+129C>T | ENSP00000440444.1:n.-240+129C>T | |
| NM_138702.1:c.1100C>T MANE Select | NP_619647.1:p.Ser367Phe | |
| NM_177456.2:c.-240+129C>T | NP_803251.1:n.-240+129C>T | |
| XM_011531267.1:c.-163+129C>T | XP_011529569.1:n.-163+129C>T | |
| XM_011531267.3:c.-163+129C>T | XP_011529569.1:n.-163+129C>T | |
| XM_017029265.2:c.-240+129C>T | XP_016884754.1:n.-240+129C>T |