gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39387196T>A , CM000679.2:g.39387196T>A | GRCh38 |
| NC_000017.10:g.37543449T>A , CM000679.1:g.37543449T>A | GRCh37 |
| NC_000017.9:g.34796975T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264658.11:c.42+14165A>T MANE Select | ENSP00000264658.6:n.42+14165A>T | |
| ENST00000647139.1:c.-1+14470A>T | ENSP00000495330.1:n.-1+14470A>T | |
| ENST00000264658.10:c.42+14165A>T | ENSP00000264658.6:n.42+14165A>T | |
| ENST00000394294.7:c.42+14165A>T | ENSP00000377832.3:n.42+14165A>T | |
| ENST00000577399.5:c.48+14977A>T | ENSP00000462878.1:n.48+14977A>T | |
| ENST00000583610.5:c.42+14165A>T | ENSP00000462271.1:n.42+14165A>T | |
| NM_001184906.1:c.42+14165A>T | NP_001171835.1:n.42+14165A>T | |
| NM_032875.2:c.42+14165A>T | NP_116264.2:n.42+14165A>T | |
| XM_005257746.2:c.153+14977A>T | XP_005257803.2:n.153+14977A>T | |
| XM_005257747.2:c.153+14977A>T | XP_005257804.2:n.153+14977A>T | |
| XM_011525392.1:c.-1+14470A>T | XP_011523694.1:n.-1+14470A>T | |
| XM_011525393.1:c.-1+15274A>T | XP_011523695.1:n.-1+15274A>T | |
| XM_005257746.3:c.153+14977A>T | XP_005257803.2:n.153+14977A>T | |
| XM_005257747.4:c.153+14977A>T | XP_005257804.2:n.153+14977A>T | |
| NM_032875.3:c.42+14165A>T MANE Select | NP_116264.2:n.42+14165A>T | |
| NM_001184906.2:c.42+14165A>T | NP_001171835.1:n.42+14165A>T | |
| NM_001370208.1:c.153+14977A>T | NP_001357137.1:n.153+14977A>T | |
| NM_001370209.1:c.153+14977A>T | NP_001357138.1:n.153+14977A>T |