Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.72781915G>T , CM000675.2:g.72781915G>T | GRCh38 |
| NC_000013.10:g.73356053G>T , CM000675.1:g.73356053G>T | GRCh37 |
| NC_000013.9:g.72254054G>T | NCBI36 |
| NG_053118.1:g.4892G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377767.8:c.-83C>A | ENSP00000366997.4:n.-83C>A | |
| ENST00000377780.8:c.-83C>A | ENSP00000367011.4:n.-83C>A | |
| ENST00000475871.1:n.180C>A | ||
| ENST00000545453.5:c.-637C>A | ENSP00000440058.1:n.-637C>A | |
| NM_001128226.2:c.-83C>A | NP_001121698.1:n.-83C>A | |
| NM_014953.4:c.-83C>A | NP_055768.3:n.-83C>A | |
| XM_005266294.1:c.-637C>A | XP_005266351.1:n.-637C>A | |
| XM_006719778.1:c.-294C>A | XP_006719841.1:n.-294C>A | |
| NM_001322348.1:c.-294C>A | NP_001309277.1:n.-294C>A | |
| NM_001322349.1:c.-637C>A | NP_001309278.1:n.-637C>A |