gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78597897G>T , CM000678.2:g.78597897G>T | GRCh38 |
| NC_000016.9:g.78631794G>T , CM000678.1:g.78631794G>T | GRCh37 |
| NC_000016.8:g.77189295G>T | NCBI36 |
| NG_011698.1:g.503244G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.1057-159043G>T | ENSP00000507689.1:n.1057-159043G>T | |
| ENST00000684632.1:n.1436-37950G>T | ||
| ENST00000566780.6:c.1056+165145G>T MANE Select | ENSP00000457230.1:n.1056+165145G>T | |
| ENST00000402655.6:c.409+482743G>T | ENSP00000384238.2:n.409+482743G>T | |
| ENST00000406884.6:c.516+433608G>T | ENSP00000384495.2:n.516+433608G>T | |
| ENST00000408984.7:c.1057-93345G>T | ENSP00000386161.3:n.1057-93345G>T | |
| ENST00000539474.6:c.410-159043G>T | ENSP00000445210.2:n.410-159043G>T | |
| ENST00000566780.5:c.1056+165145G>T | ENSP00000457230.1:n.1056+165145G>T | |
| ENST00000569332.5:c.*853+165145G>T | ENSP00000454788.1:n.*853+165145G>T | |
| NM_001291997.1:c.717+165145G>T | NP_001278926.1:n.717+165145G>T | |
| NM_016373.3:c.1056+165145G>T | NP_057457.1:n.1056+165145G>T | |
| XM_011523100.1:c.1152+62055G>T | XP_011521402.1:n.1152+62055G>T | |
| XM_011523103.1:c.1057-159043G>T | XP_011521405.1:n.1057-159043G>T | |
| XM_011523103.3:c.1057-159043G>T | XP_011521405.1:n.1057-159043G>T | |
| XM_017023279.1:c.142+62055G>T | XP_016878768.1:n.142+62055G>T | |
| NM_016373.4:c.1056+165145G>T MANE Select | NP_057457.1:n.1056+165145G>T | |
| NM_001291997.2:c.717+165145G>T | NP_001278926.1:n.717+165145G>T |