Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177310044G>T , CM000666.2:g.177310044G>T | GRCh38 |
| NC_000004.11:g.178231198G>T , CM000666.1:g.178231198G>T | GRCh37 |
| NC_000004.10:g.178468192G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018248.3:c.91G>T MANE Select | NP_060718.3:p.Ala31Ser |
| ENST00000264596.4:c.91G>T MANE Select | ENSP00000264596.3:p.Ala31Ser |
| NM_018248.2:c.91G>T | NP_060718.2:p.Ala31Ser |
| ENST00000264596.3:c.91G>T | ENSP00000264596.3:p.Ala31Ser |
| ENST00000513321.1:c.91G>T | ENSP00000424735.1:p.Ala31Ser |
| XM_017008360.1:c.91G>T | XP_016863849.1:p.Ala31Ser |