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