Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026512A>C , CM000683.2:g.33026512A>C | GRCh38 |
| NC_000021.8:g.34398820A>C , CM000683.1:g.34398820A>C | GRCh37 |
| NC_000021.7:g.33320690A>C | NCBI36 |
| NG_011834.1:g.5582A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382357.4:c.-62-289A>C MANE Select | ENSP00000371794.3:n.-62-289A>C | |
| ENST00000333337.3:c.-351A>C | ENSP00000331040.3:n.-351A>C | |
| ENST00000382357.3:c.-62-289A>C | ENSP00000371794.3:n.-62-289A>C | |
| ENST00000430860.1:c.-63+252A>C | ENSP00000391183.1:n.-63+252A>C | |
| NM_005806.3:c.-62-289A>C | NP_005797.1:n.-62-289A>C | |
| XM_005260908.1:c.-63+252A>C | XP_005260965.1:n.-63+252A>C | |
| NM_005806.4:c.-62-289A>C MANE Select | NP_005797.1:n.-62-289A>C |