Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887124G>T , CM000681.2:g.12887124G>T | GRCh38 |
| NC_000019.9:g.12997938G>T , CM000681.1:g.12997938G>T | GRCh37 |
| NC_000019.8:g.12858938G>T | NCBI36 |
| NG_009292.1:g.965G>T | |
| NG_013087.1:g.5080C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.17C>A MANE Select | ENSP00000264834.3:p.Thr6Asn | |
| ENST00000264834.4:c.17C>A | ENSP00000264834.3:p.Thr6Asn | |
| NM_006563.3:c.17C>A | NP_006554.1:p.Thr6Asn | |
| XM_011527642.1:c.-187C>A | XP_011525944.1:n.-187C>A | |
| NM_006563.4:c.17C>A | NP_006554.1:p.Thr6Asn | |
| XM_011527642.2:c.-187C>A | XP_011525944.1:n.-187C>A | |
| NM_006563.5:c.17C>A MANE Select | NP_006554.1:p.Thr6Asn |