Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106659G>C , CM000668.2:g.80106659G>C | GRCh38 |
| NC_000006.11:g.80816376G>C , CM000668.1:g.80816376G>C | GRCh37 |
| NC_000006.10:g.80873095G>C | NCBI36 |
| NG_009775.1:g.5033G>C | |
| NG_009775.2:g.5033G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.8:c.-35G>C | ENSP00000318351.5:n.-35G>C | |
| ENST00000356489.9:c.-35G>C | ENSP00000348880.5:n.-35G>C | |
| ENST00000369760.8:c.-35G>C | ENSP00000358775.4:n.-35G>C | |
| NM_000056.3:c.-35G>C | NP_000047.1:n.-35G>C | |
| NM_183050.2:c.-35G>C | NP_898871.1:n.-35G>C | |
| XM_006715542.2:c.-39G>C | XP_006715605.1:n.-39G>C | |
| NM_000056.4:c.-35G>C | NP_000047.1:n.-35G>C | |
| NM_001318975.1:c.-39G>C | NP_001305904.1:n.-39G>C | |
| NM_183050.3:c.-35G>C | NP_898871.1:n.-35G>C | |
| NR_134945.1:n.50G>C |