dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66806426C>G , CM000679.2:g.66806426C>G | GRCh38 |
| NC_000017.10:g.64802544C>G , CM000679.1:g.64802544C>G | GRCh37 |
| NC_000017.9:g.62233006C>G | NCBI36 |
| NG_012206.1:g.508619C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413366.8:c.*2389C>G MANE Select | ENSP00000408695.3:n.*2389C>G | |
| ENST00000413366.7:c.*2389C>G | ENSP00000408695.3:n.*2389C>G | |
| NM_002737.2:c.*2389C>G | NP_002728.1:n.*2389C>G | |
| XM_011524989.1:c.*2389C>G | XP_011523291.1:n.*2389C>G | |
| XM_011524990.1:c.*2389C>G | XP_011523292.1:n.*2389C>G | |
| XM_017024837.1:c.*2389C>G | XP_016880326.1:n.*2389C>G | |
| XM_024450829.1:c.*2389C>G | XP_024306597.1:n.*2389C>G | |
| XM_024450830.1:c.*2389C>G | XP_024306598.1:n.*2389C>G | |
| NM_002737.3:c.*2389C>G MANE Select | NP_002728.2:n.*2389C>G |