Linked Data
ClinVar Variation Id:
435213
ClinVar RCV Id:
RCV000501423
dbSNP Id:
rs1283481751
gnomAD v2:
1-240255780-C-T
gnomAD v4:
1-240092480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240092480C>T , CM000663.2:g.240092480C>T | GRCh38 |
| NC_000001.10:g.240255780C>T , CM000663.1:g.240255780C>T | GRCh37 |
| NC_000001.9:g.238322403C>T | NCBI36 |
| NG_042054.1:g.5596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.371C>T MANE Select | ENSP00000318884.9:p.Ser124Leu | |
| ENST00000319653.13:c.371C>T | ENSP00000318884.9:p.Ser124Leu | |
| ENST00000447095.5:c.-87+24407C>T | ENSP00000409308.1:n.-87+24407C>T | |
| NM_001305424.1:c.371C>T | NP_001292353.1:p.Ser124Leu | |
| NM_020066.4:c.371C>T | NP_064450.3:p.Ser124Leu | |
| XM_011544237.1:c.371C>T | XP_011542539.1:p.Ser124Leu | |
| XR_949151.1:n.592C>T | ||
| NM_001348094.1:c.371C>T | NP_001335023.1:p.Ser124Leu | |
| XM_011544237.3:c.371C>T | XP_011542539.1:p.Ser124Leu | |
| XM_017001837.1:c.371C>T | XP_016857326.1:p.Ser124Leu | |
| XM_017001838.1:c.371C>T | XP_016857327.1:p.Ser124Leu | |
| NM_020066.5:c.371C>T MANE Select | NP_064450.3:p.Ser124Leu | |
| NM_001305424.2:c.371C>T | NP_001292353.1:p.Ser124Leu | |
| NM_001348094.2:c.371C>T | NP_001335023.1:p.Ser124Leu |