Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622783C>T , CM000668.2:g.31622783C>T | GRCh38 |
| NC_000006.11:g.31590560C>T , CM000668.1:g.31590560C>T | GRCh37 |
| NC_000006.10:g.31698539C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.10C>T | ENSP00000516471.1:p.Gln4Ter | |
| ENST00000376033.3:c.-7C>T MANE Select | ENSP00000365201.2:n.-7C>T | |
| ENST00000376007.8:c.-7C>T | ENSP00000365175.4:n.-7C>T | |
| ENST00000376033.2:c.-7C>T | ENSP00000365201.2:n.-7C>T | |
| ENST00000469577.5:n.136-1478C>T | ||
| NM_004638.3:c.-7C>T | NP_004629.3:n.-7C>T | |
| NM_080686.2:c.-7C>T | NP_542417.2:n.-7C>T | |
| XM_011514890.1:c.-7C>T | XP_011513192.1:n.-7C>T | |
| NM_004638.4:c.-7C>T MANE Select | NP_004629.3:n.-7C>T | |
| NM_080686.3:c.-7C>T | NP_542417.2:n.-7C>T |