dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3927773G>T , CM000681.2:g.3927773G>T | GRCh38 |
| NC_000019.9:g.3927771G>T , CM000681.1:g.3927771G>T | GRCh37 |
| NC_000019.8:g.3878771G>T | NCBI36 |
| NG_012638.1:g.52154G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450849.7:c.*3181G>T MANE Select | ENSP00000390941.1:n.*3181G>T | |
| ENST00000450849.6:c.*3181G>T | ENSP00000390941.1:n.*3181G>T | |
| NM_033064.4:c.*3181G>T | NP_149053.1:n.*3181G>T | |
| NM_033064.5:c.*3181G>T MANE Select | NP_149053.1:n.*3181G>T |