gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45406676G>T , CM000681.2:g.45406676G>T | GRCh38 |
| NC_000019.9:g.45909934G>T , CM000681.1:g.45909934G>T | GRCh37 |
| NC_000019.8:g.50601774G>T | NCBI36 |
| NG_015839.2:g.77153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.-21G>T MANE Select | ENSP00000310966.3:n.-21G>T | |
| ENST00000309424.7:c.-21G>T | ENSP00000310966.3:n.-21G>T | |
| ENST00000592852.1:c.-930G>T | ENSP00000467771.1:n.-930G>T | |
| NM_001297590.1:c.-21G>T | NP_001284519.1:n.-21G>T | |
| NM_012099.1:c.-21G>T | NP_036231.1:n.-21G>T | |
| NM_001297590.2:c.-21G>T | NP_001284519.1:n.-21G>T | |
| NM_012099.2:c.-21G>T | NP_036231.1:n.-21G>T | |
| NM_001297590.3:c.-21G>T | NP_001284519.1:n.-21G>T | |
| NM_012099.3:c.-21G>T MANE Select | NP_036231.1:n.-21G>T |