Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814192T>C , CM000671.2:g.127814192T>C | GRCh38 |
| NC_000009.11:g.130576471T>C , CM000671.1:g.130576471T>C | GRCh37 |
| NC_000009.10:g.129616292T>C | NCBI36 |
| NG_009551.1:g.45577A>G , LRG_589:g.45577A>G | |
| NG_023245.1:g.16318T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-16T>C | |
| XM_005251864.2:c.1484-16T>C | XP_005251921.1:n.1484-16T>C |
| XM_005251864.4:c.1484-16T>C | XP_005251921.1:n.1484-16T>C |
| XM_017014565.2:c.1334-16T>C | XP_016870054.1:n.1334-16T>C |
| XR_242582.2:n.1381-16T>C | |
| XR_242582.4:n.1379-16T>C |