Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101563T>C , CM000679.2:g.80101563T>C | GRCh38 |
| NC_000017.10:g.78075362T>C , CM000679.1:g.78075362T>C | GRCh37 |
| NC_000017.9:g.75689957T>C | NCBI36 |
| NG_009822.1:g.5008T>C , LRG_673:g.5008T>C | |
| NG_029761.1:g.69932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-95T>C | ENSP00000460543.2:n.-95T>C | |
| ENST00000570803.5:c.-95T>C | ENSP00000460543.1:n.-95T>C | |
| NM_000152.3:c.-360T>C , LRG_673t1:c.-360T>C | NP_000143.2:n.-360T>C | |
| NM_001079803.1:c.-175T>C | NP_001073271.1:n.-175T>C | |
| NM_001079804.1:c.-95T>C | NP_001073272.1:n.-95T>C | |
| XM_005257194.3:c.-210T>C | XP_005257251.1:n.-210T>C | |
| NM_000152.4:c.-360T>C | NP_000143.2:n.-360T>C | |
| NM_001079803.2:c.-175T>C | NP_001073271.1:n.-175T>C | |
| NM_001079804.2:c.-95T>C | NP_001073272.1:n.-95T>C | |
| NR_134848.1:n.38T>C | ||
| XM_005257194.4:c.-210T>C | XP_005257251.1:n.-210T>C |