Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70169604T>C , CM000679.2:g.70169604T>C | GRCh38 |
| NC_000017.10:g.68165745T>C , CM000679.1:g.68165745T>C | GRCh37 |
| NC_000017.9:g.65677340T>C | NCBI36 |
| NG_008798.1:g.5070T>C , LRG_328:g.5070T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.-314T>C MANE Select | NP_000882.1:n.-314T>C |
| ENST00000243457.4:c.-314T>C MANE Select | ENSP00000243457.2:n.-314T>C |
| NM_000891.2:c.-314T>C , LRG_328t1:c.-314T>C | NP_000882.1:n.-314T>C |
| ENST00000243457.3:c.-314T>C | ENSP00000243457.2:n.-314T>C |
| ENST00000535240.1:c.-217+747T>C | ENSP00000441848.1:n.-217+747T>C |
| XM_011524779.1:c.-217+747T>C | XP_011523081.1:n.-217+747T>C |