Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244728T>C , CM000684.2:g.39244728T>C | GRCh38 |
| NC_000022.10:g.39640733T>C , CM000684.1:g.39640733T>C | GRCh37 |
| NC_000022.9:g.37970679T>C | NCBI36 |
| NG_012111.1:g.5225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-765A>G MANE Select | ENSP00000330382.6:n.-765A>G | |
| ENST00000331163.10:c.-765A>G | ENSP00000330382.6:n.-765A>G | |
| NM_002608.2:c.-765A>G | NP_002599.1:n.-765A>G | |
| NM_002608.3:c.-765A>G | NP_002599.1:n.-765A>G | |
| NM_002608.4:c.-765A>G MANE Select | NP_002599.1:n.-765A>G |