Linked Data
dbSNP Id:
rs198978
gnomAD v2:
19-51383072-G-T
gnomAD v3:
19-50879816-G-T
gnomAD v4:
19-50879816-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50879816G>T , CM000681.2:g.50879816G>T | GRCh38 |
| NC_000019.9:g.51383072G>T , CM000681.1:g.51383072G>T | GRCh37 |
| NC_000019.8:g.56074884G>T | NCBI36 |
| NG_031984.1:g.11384G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325321.8:c.*1257G>T MANE Select | ENSP00000313581.2:n.*1257G>T | |
| ENST00000325321.7:c.*1257G>T | ENSP00000313581.2:n.*1257G>T | |
| ENST00000358049.8:c.*1408G>T | ENSP00000350748.3:n.*1408G>T | |
| ENST00000391810.6:c.*1257G>T | ENSP00000375686.2:n.*1257G>T | |
| ENST00000597439.1:c.*1572G>T | ENSP00000471214.1:n.*1572G>T | |
| NM_001002231.2:c.*1408G>T | NP_001002231.1:n.*1408G>T | |
| NM_001256080.1:c.*1257G>T | NP_001243009.1:n.*1257G>T | |
| NM_005551.4:c.*1257G>T | NP_005542.1:n.*1257G>T | |
| NR_045762.1:n.2108G>T | ||
| NR_045763.1:n.2170G>T | ||
| NM_005551.5:c.*1257G>T MANE Select | NP_005542.1:n.*1257G>T | |
| NM_001002231.3:c.*1408G>T | NP_001002231.1:n.*1408G>T | |
| NR_045762.2:n.2102G>T | ||
| NR_045763.2:n.2164G>T | ||
| NM_001256080.2:c.*1257G>T | NP_001243009.1:n.*1257G>T |