Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859710T>C , CM000668.2:g.31859710T>C | GRCh38 |
| NC_000006.11:g.31827487T>C , CM000668.1:g.31827487T>C | GRCh37 |
| NC_000006.10:g.31935466T>C | NCBI36 |
| NG_008201.1:g.8223A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*9A>G MANE Select | ENSP00000364782.4:n.*9A>G | |
| ENST00000677054.1:n.2596A>G | ||
| ENST00000677512.1:n.1534A>G | ||
| ENST00000678869.1:n.1845A>G | ||
| ENST00000375631.4:c.*9A>G | ENSP00000364782.4:n.*9A>G | |
| ENST00000480384.1:n.1556A>G | ||
| ENST00000491768.5:c.*367A>G | ENSP00000433127.1:n.*367A>G | |
| ENST00000495807.1:n.2565A>G | ||
| NM_000434.3:c.*9A>G | NP_000425.1:n.*9A>G | |
| NM_000434.4:c.*9A>G MANE Select | NP_000425.1:n.*9A>G |