Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861438G>T , CM000669.2:g.150861438G>T | GRCh38 |
| NC_000007.13:g.150558526G>T , CM000669.1:g.150558526G>T | GRCh37 |
| NC_000007.12:g.150189459G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.*229G>T MANE Select | ENSP00000354193.4:n.*229G>T | |
| ENST00000360937.8:c.*229G>T | ENSP00000354193.4:n.*229G>T | |
| ENST00000467291.5:c.*229G>T | ENSP00000418328.1:n.*229G>T | |
| ENST00000493429.5:c.*229G>T | ENSP00000418614.1:n.*229G>T | |
| XR_928169.1:n.295+15571C>A | ||
| XR_928170.1:n.425+7178C>A | ||
| XR_928171.1:n.297+15571C>A | ||
| XR_928169.2:n.301+15571C>A | ||
| XR_928171.2:n.301+15571C>A | ||
| NM_001091.4:c.*229G>T MANE Select | NP_001082.2:n.*229G>T | |
| NM_001272072.2:c.*229G>T | NP_001259001.1:n.*229G>T |