dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.128266739A>C , CM000664.2:g.128266739A>C | GRCh38 |
| NC_000002.11:g.129024313A>C , CM000664.1:g.129024313A>C | GRCh37 |
| NC_000002.10:g.128740783A>C | NCBI36 |
| NG_032966.1:g.56859T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259241.7:c.*1423T>G MANE Select | ENSP00000259241.6:n.*1423T>G | |
| ENST00000259241.6:c.*1423T>G | ENSP00000259241.6:n.*1423T>G | |
| ENST00000469019.1:n.361-20214T>G | ||
| NM_004807.2:c.*1423T>G | NP_004798.3:n.*1423T>G | |
| NM_004807.3:c.*1423T>G MANE Select | NP_004798.3:n.*1423T>G |