Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778288G>T , CM000682.2:g.6778288G>T | GRCh38 |
| NC_000020.10:g.6758935G>T , CM000682.1:g.6758935G>T | GRCh37 |
| NC_000020.9:g.6706935G>T | NCBI36 |
| NG_023233.1:g.15191G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.390G>T MANE Select | ENSP00000368104.3:p.Arg130= | |
| ENST00000378827.4:c.390G>T | ENSP00000368104.3:p.Arg130= | |
| NM_001200.2:c.390G>T | NP_001191.1:p.Arg130= | |
| XM_011529323.1:c.-79G>T | XP_011527625.1:n.-79G>T | |
| NM_001200.3:c.390G>T | NP_001191.1:p.Arg130= | |
| NM_001200.4:c.390G>T MANE Select | NP_001191.1:p.Arg130= |