Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6605297A>G , CM000671.2:g.6605297A>G | GRCh38 |
| NC_000009.11:g.6605297A>G , CM000671.1:g.6605297A>G | GRCh37 |
| NC_000009.10:g.6595297A>G | NCBI36 |
| NG_016397.1:g.45396T>C , LRG_643:g.45396T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.714-19T>C MANE Select | NP_000161.2:n.714-19T>C |
| ENST00000321612.8:c.714-19T>C MANE Select | ENSP00000370737.4:n.714-19T>C |
| NM_000170.2:c.714-19T>C , LRG_643t1:c.714-19T>C | NP_000161.2:n.714-19T>C |
| ENST00000321612.6:c.714-19T>C | ENSP00000370737.3:n.714-19T>C |
| ENST00000638654.1:c.-59T>C | ENSP00000491101.1:n.-59T>C |
| ENST00000639364.1:n.414-19T>C | |
| ENST00000639443.1:n.282-19T>C | |
| ENST00000639840.1:c.420-19T>C | ENSP00000491161.1:n.420-19T>C |
| ENST00000639954.1:n.422-19T>C | |
| ENST00000640592.1:n.597-19T>C |