Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550950C>T , CM000671.2:g.32550950C>T | GRCh38 |
| NC_000009.11:g.32550948C>T , CM000671.1:g.32550948C>T | GRCh37 |
| NC_000009.10:g.32540948C>T | NCBI36 |
| NG_017050.1:g.6675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.22G>A MANE Select | ENSP00000353735.2:p.Gly8Arg | |
| ENST00000680198.1:c.22G>A | ENSP00000505143.1:p.Gly8Arg | |
| ENST00000681750.1:c.-221G>A | ENSP00000506413.1:n.-221G>A | |
| ENST00000360538.6:c.22G>A | ENSP00000353735.2:p.Gly8Arg | |
| ENST00000379858.1:c.3+1484G>A | ENSP00000369187.1:n.3+1484G>A | |
| NM_001195622.1:c.3+1484G>A | NP_001182551.1:n.3+1484G>A | |
| NM_005802.4:c.22G>A | NP_005793.2:p.Gly8Arg | |
| NM_005802.5:c.22G>A MANE Select | NP_005793.2:p.Gly8Arg | |
| NM_001195622.2:c.3+1484G>A | NP_001182551.1:n.3+1484G>A |