Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94111616C>A , CM000663.2:g.94111616C>A | GRCh38 |
| NC_000001.10:g.94577172C>A , CM000663.1:g.94577172C>A | GRCh37 |
| NC_000001.9:g.94349760C>A | NCBI36 |
| NG_009073.1:g.14534G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.161-37G>T MANE Select | ENSP00000359245.3:n.161-37G>T | |
| ENST00000649773.1:c.161-37G>T | ENSP00000496882.1:n.161-37G>T | |
| ENST00000370225.3:c.161-37G>T | ENSP00000359245.3:n.161-37G>T | |
| NM_000350.2:c.161-37G>T | NP_000341.2:n.161-37G>T | |
| NM_000350.3:c.161-37G>T MANE Select | NP_000341.2:n.161-37G>T |