Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244617G>A , CM000684.2:g.39244617G>A | GRCh38 |
| NC_000022.10:g.39640622G>A , CM000684.1:g.39640622G>A | GRCh37 |
| NC_000022.9:g.37970568G>A | NCBI36 |
| NG_012111.1:g.5336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-654C>T MANE Select | ENSP00000330382.6:n.-654C>T | |
| ENST00000331163.10:c.-654C>T | ENSP00000330382.6:n.-654C>T | |
| NM_002608.2:c.-654C>T | NP_002599.1:n.-654C>T | |
| NM_002608.3:c.-654C>T | NP_002599.1:n.-654C>T | |
| NM_002608.4:c.-654C>T MANE Select | NP_002599.1:n.-654C>T |