Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026220G>C , CM000683.2:g.33026220G>C | GRCh38 |
| NC_000021.8:g.34398528G>C , CM000683.1:g.34398528G>C | GRCh37 |
| NC_000021.7:g.33320398G>C | NCBI36 |
| NG_011834.1:g.5290G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382357.4:c.-63+194G>C MANE Select | ENSP00000371794.3:n.-63+194G>C | |
| ENST00000333337.3:c.-643G>C | ENSP00000331040.3:n.-643G>C | |
| ENST00000382357.3:c.-63+194G>C | ENSP00000371794.3:n.-63+194G>C | |
| ENST00000430860.1:c.-103G>C | ENSP00000391183.1:n.-103G>C | |
| NM_005806.3:c.-63+194G>C | NP_005797.1:n.-63+194G>C | |
| XM_005260908.1:c.-103G>C | XP_005260965.1:n.-103G>C | |
| NM_005806.4:c.-63+194G>C MANE Select | NP_005797.1:n.-63+194G>C |