Linked Data
dbSNP Id:
rs544353827
gnomAD v2:
12-57534431-C-T
gnomAD v3:
12-57140648-C-T
gnomAD v4:
12-57140648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57140648C>T , CM000674.2:g.57140648C>T | GRCh38 |
| NC_000012.11:g.57534431C>T , CM000674.1:g.57534431C>T | GRCh37 |
| NC_000012.10:g.55820698C>T | NCBI36 |
| NG_016444.1:g.17150C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243077.8:c.191-726C>T MANE Select | ENSP00000243077.3:n.191-726C>T | |
| ENST00000243077.7:c.191-726C>T | ENSP00000243077.3:n.191-726C>T | |
| ENST00000338962.8:c.191-726C>T | ENSP00000341264.4:n.191-726C>T | |
| ENST00000553277.5:c.191-726C>T | ENSP00000451449.1:n.191-726C>T | |
| ENST00000554174.1:c.191-726C>T | ENSP00000451737.1:n.191-726C>T | |
| NM_002332.2:c.191-726C>T | NP_002323.2:n.191-726C>T | |
| XM_017019303.1:c.191-726C>T | XP_016874792.1:n.191-726C>T | |
| NM_002332.3:c.191-726C>T MANE Select | NP_002323.2:n.191-726C>T |