Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887072T>G , CM000681.2:g.12887072T>G | GRCh38 |
| NC_000019.9:g.12997886T>G , CM000681.1:g.12997886T>G | GRCh37 |
| NC_000019.8:g.12858886T>G | NCBI36 |
| NG_009292.1:g.913T>G | |
| NG_013087.1:g.5132A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.69A>C MANE Select | ENSP00000264834.3:p.Thr23= | |
| ENST00000264834.4:c.69A>C | ENSP00000264834.3:p.Thr23= | |
| NM_006563.3:c.69A>C | NP_006554.1:p.Thr23= | |
| XM_011527642.1:c.-135A>C | XP_011525944.1:n.-135A>C | |
| NM_006563.4:c.69A>C | NP_006554.1:p.Thr23= | |
| XM_011527642.2:c.-135A>C | XP_011525944.1:n.-135A>C | |
| NM_006563.5:c.69A>C MANE Select | NP_006554.1:p.Thr23= |