Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498209G>T , CM000680.2:g.31498209G>T | GRCh38 |
| NC_000018.9:g.29078172G>T , CM000680.1:g.29078172G>T | GRCh37 |
| NC_000018.8:g.27332170G>T | NCBI36 |
| NG_007072.3:g.4968G>T , LRG_397:g.4968G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.-43G>T MANE Select | ENSP00000261590.8:n.-43G>T | |
| ENST00000261590.12:c.-43G>T | ENSP00000261590.8:n.-43G>T | |
| NM_001943.3:c.-43G>T , LRG_397t1:c.-43G>T | NP_001934.2:n.-43G>T | |
| NM_001943.4:c.-43G>T | NP_001934.2:n.-43G>T | |
| NM_001943.5:c.-43G>T MANE Select | NP_001934.2:n.-43G>T |