Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48603556G>A , CM000681.2:g.48603556G>A | GRCh38 |
| NC_000019.9:g.49106813G>A , CM000681.1:g.49106813G>A | GRCh37 |
| NC_000019.8:g.53798625G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017708.4:c.1114C>T MANE Select | NP_060178.2:p.Arg372Cys |
| ENST00000263266.4:c.1114C>T MANE Select | ENSP00000263266.2:p.Arg372Cys |
| NM_017708.3:c.1114C>T | NP_060178.2:p.Arg372Cys |
| ENST00000263266.3:c.1114C>T | ENSP00000263266.2:p.Arg372Cys |
| XM_005259019.1:c.1114C>T | XP_005259076.1:p.Arg372Cys |
| XM_011527049.1:c.759-2187C>T | XP_011525351.1:n.759-2187C>T |
| XM_011527049.3:c.759-2187C>T | XP_011525351.1:n.759-2187C>T |
| XM_024451561.1:c.1114C>T | XP_024307329.1:p.Arg372Cys |