Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244610T>G , CM000684.2:g.39244610T>G | GRCh38 |
| NC_000022.10:g.39640615T>G , CM000684.1:g.39640615T>G | GRCh37 |
| NC_000022.9:g.37970561T>G | NCBI36 |
| NG_012111.1:g.5343A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-647A>C MANE Select | ENSP00000330382.6:n.-647A>C | |
| ENST00000331163.10:c.-647A>C | ENSP00000330382.6:n.-647A>C | |
| NM_002608.2:c.-647A>C | NP_002599.1:n.-647A>C | |
| NM_002608.3:c.-647A>C | NP_002599.1:n.-647A>C | |
| NM_002608.4:c.-647A>C MANE Select | NP_002599.1:n.-647A>C |