Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033625G>T , CM000685.2:g.106033625G>T | GRCh38 |
| NC_000023.10:g.105277616G>T , CM000685.1:g.105277616G>T | GRCh37 |
| NC_000023.9:g.105164272G>T | NCBI36 |
| NG_021252.1:g.10103C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1123C>A MANE Select | ENSP00000361644.1:p.Gln375Lys | |
| ENST00000327674.8:c.1123C>A | ENSP00000329374.4:p.Gln375Lys | |
| ENST00000372563.1:c.1123C>A | ENSP00000361644.1:p.Gln375Lys | |
| NM_000354.5:c.1123C>A | NP_000345.2:p.Gln375Lys | |
| XM_005262180.3:c.*68C>A | XP_005262237.1:n.*68C>A | |
| XM_006724683.1:c.1153C>A | XP_006724746.1:p.Gln385Lys | |
| XM_005262180.4:c.*68C>A | XP_005262237.1:n.*68C>A | |
| XM_006724683.2:c.1153C>A | XP_006724746.1:p.Gln385Lys | |
| NM_000354.6:c.1123C>A MANE Select | NP_000345.2:p.Gln375Lys |