dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155134221G>T , CM000663.2:g.155134221G>T | GRCh38 |
| NC_000001.10:g.155106697G>T , CM000663.1:g.155106697G>T | GRCh37 |
| NC_000001.9:g.153373321G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368407.8:c.*154G>T MANE Select | ENSP00000357392.3:n.*154G>T | |
| ENST00000368406.2:c.*154G>T | ENSP00000357391.2:n.*154G>T | |
| ENST00000368407.7:c.*154G>T | ENSP00000357392.3:n.*154G>T | |
| ENST00000469878.5:n.1023G>T | ||
| ENST00000474413.5:n.997G>T | ||
| NM_004428.2:c.*154G>T | NP_004419.2:n.*154G>T | |
| NM_182685.1:c.*154G>T | NP_872626.1:n.*154G>T | |
| XM_005244940.3:c.*154G>T | XP_005244997.1:n.*154G>T | |
| NM_004428.3:c.*154G>T MANE Select | NP_004419.2:n.*154G>T | |
| NM_182685.2:c.*154G>T | NP_872626.1:n.*154G>T |