Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977967C>T , CM000674.2:g.14977967C>T | GRCh38 |
| NC_000012.11:g.15130901C>T , CM000674.1:g.15130901C>T | GRCh37 |
| NC_000012.10:g.15022168C>T | NCBI36 |
| NG_016859.1:g.9946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-5C>T MANE Select | ENSP00000266395.2:n.-41-5C>T | |
| ENST00000266395.2:c.-41-5C>T | ENSP00000266395.2:n.-41-5C>T | |
| NM_006205.2:c.-41-5C>T | NP_006196.1:n.-41-5C>T | |
| XR_931376.1:n.175+11520G>A | ||
| XM_017019431.2:c.-46C>T | XP_016874920.1:n.-46C>T | |
| XR_931376.2:n.389+11520G>A | ||
| NM_006205.3:c.-41-5C>T MANE Select | NP_006196.1:n.-41-5C>T |