Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26135268T>C , CM000664.2:g.26135268T>C | GRCh38 |
| NC_000002.11:g.26358137T>C , CM000664.1:g.26358137T>C | GRCh37 |
| NC_000002.10:g.26211641T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264710.5:c.*247T>C MANE Select | ENSP00000264710.4:n.*247T>C | |
| ENST00000264710.4:c.*247T>C | ENSP00000264710.4:n.*247T>C | |
| ENST00000495146.5:n.1213T>C | ||
| NM_016131.4:c.*247T>C | NP_057215.3:n.*247T>C | |
| XM_024452565.1:c.*247T>C | XP_024308333.1:n.*247T>C | |
| NM_016131.5:c.*247T>C MANE Select | NP_057215.3:n.*247T>C |