Linked Data
dbSNP Id:
rs866740128
gnomAD v2:
19-51383092-C-T
gnomAD v3:
19-50879836-C-T
gnomAD v4:
19-50879836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50879836C>T , CM000681.2:g.50879836C>T | GRCh38 |
| NC_000019.9:g.51383092C>T , CM000681.1:g.51383092C>T | GRCh37 |
| NC_000019.8:g.56074904C>T | NCBI36 |
| NG_031984.1:g.11404C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325321.8:c.*1277C>T MANE Select | ENSP00000313581.2:n.*1277C>T | |
| ENST00000325321.7:c.*1277C>T | ENSP00000313581.2:n.*1277C>T | |
| ENST00000358049.8:c.*1428C>T | ENSP00000350748.3:n.*1428C>T | |
| ENST00000391810.6:c.*1277C>T | ENSP00000375686.2:n.*1277C>T | |
| ENST00000597439.1:c.*1592C>T | ENSP00000471214.1:n.*1592C>T | |
| NM_001002231.2:c.*1428C>T | NP_001002231.1:n.*1428C>T | |
| NM_001256080.1:c.*1277C>T | NP_001243009.1:n.*1277C>T | |
| NM_005551.4:c.*1277C>T | NP_005542.1:n.*1277C>T | |
| NR_045762.1:n.2128C>T | ||
| NR_045763.1:n.2190C>T | ||
| NM_005551.5:c.*1277C>T MANE Select | NP_005542.1:n.*1277C>T | |
| NM_001002231.3:c.*1428C>T | NP_001002231.1:n.*1428C>T | |
| NR_045762.2:n.2122C>T | ||
| NR_045763.2:n.2184C>T | ||
| NM_001256080.2:c.*1277C>T | NP_001243009.1:n.*1277C>T |