Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920140C>T , CM000679.2:g.74920140C>T | GRCh38 |
| NC_000017.10:g.72916235C>T , CM000679.1:g.72916235C>T | GRCh37 |
| NC_000017.9:g.70427830C>T | NCBI36 |
| NG_007882.1:g.8117G>A | |
| NG_033062.1:g.866C>T | |
| NG_007882.2:g.8124G>A | |
| NG_033062.2:g.866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.696G>A MANE Select | ENSP00000480279.1:p.Lys232= | |
| ENST00000579243.1:c.*295G>A | ENSP00000462568.1:n.*295G>A | |
| ENST00000614341.4:c.696G>A | ENSP00000480279.1:p.Lys232= | |
| NM_001282489.2:c.387G>A | NP_001269418.1:p.Lys129= | |
| NM_173477.4:c.696G>A | NP_775748.2:p.Lys232= | |
| XM_011524296.1:c.387G>A | XP_011522598.1:p.Lys129= | |
| XM_011524296.2:c.387G>A | XP_011522598.1:p.Lys129= | |
| NM_173477.5:c.696G>A MANE Select | NP_775748.2:p.Lys232= | |
| NM_001282489.3:c.387G>A | NP_001269418.1:p.Lys129= |