Linked Data
dbSNP Id:
rs1825630
gnomAD v2:
3-59902801-C-T
gnomAD v3:
3-59917075-C-T
gnomAD v4:
3-59917075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.59917075C>T , CM000665.2:g.59917075C>T | GRCh38 |
| NC_000003.11:g.59902801C>T , CM000665.1:g.59902801C>T | GRCh37 |
| NC_000003.10:g.59877841C>T | NCBI36 |
| NG_007551.1:g.1339333G>A | |
| NG_007551.2:g.1339385G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492590.6:c.348+5271G>A MANE Select | ENSP00000418582.1:n.348+5271G>A | |
| ENST00000466788.1:n.375+5271G>A | ||
| ENST00000468189.5:c.348+5271G>A | ENSP00000417480.1:n.348+5271G>A | |
| ENST00000476844.5:c.348+5271G>A | ENSP00000417557.1:n.348+5271G>A | |
| ENST00000492590.5:c.348+5271G>A | ENSP00000418582.1:n.348+5271G>A | |
| NM_001166243.1:c.348+5271G>A | NP_001159715.1:n.348+5271G>A | |
| NM_002012.2:c.348+5271G>A | NP_002003.1:n.348+5271G>A | |
| XM_011533481.1:c.348+5271G>A | XP_011531783.1:n.348+5271G>A | |
| XM_011533482.1:c.348+5271G>A | XP_011531784.1:n.348+5271G>A | |
| XM_011533483.1:c.348+5271G>A | XP_011531785.1:n.348+5271G>A | |
| XM_011533484.1:c.348+5271G>A | XP_011531786.1:n.348+5271G>A | |
| XM_011533485.1:c.348+5271G>A | XP_011531787.1:n.348+5271G>A | |
| XM_011533486.1:c.279+94296G>A | XP_011531788.1:n.279+94296G>A | |
| NM_001166243.2:c.348+5271G>A | NP_001159715.1:n.348+5271G>A | |
| NM_001320899.1:c.348+5271G>A | NP_001307828.1:n.348+5271G>A | |
| NM_001320900.1:c.348+5271G>A | NP_001307829.1:n.348+5271G>A | |
| NM_001320901.1:c.180+5271G>A | NP_001307830.1:n.180+5271G>A | |
| NM_001354589.1:c.279+94296G>A | NP_001341518.1:n.279+94296G>A | |
| NM_001354590.1:c.279+94296G>A | NP_001341519.1:n.279+94296G>A | |
| NM_002012.3:c.348+5271G>A | NP_002003.1:n.348+5271G>A | |
| NR_135491.1:n.662+5271G>A | ||
| XM_017005880.2:c.398+5271G>A | XP_016861369.1:n.398+5271G>A | |
| XM_017005881.2:c.398+5271G>A | XP_016861370.1:n.398+5271G>A | |
| XM_017005882.2:c.383+5271G>A | XP_016861371.1:n.383+5271G>A | |
| XM_017005883.1:c.398+5271G>A | XP_016861372.1:n.398+5271G>A | |
| XM_017005884.1:c.398+5271G>A | XP_016861373.1:n.398+5271G>A | |
| XM_017005885.2:c.155+5271G>A | XP_016861374.1:n.155+5271G>A | |
| XM_017005886.2:c.155+5271G>A | XP_016861375.1:n.155+5271G>A | |
| NM_002012.4:c.348+5271G>A MANE Select | NP_002003.1:n.348+5271G>A | |
| NM_001166243.3:c.348+5271G>A | NP_001159715.1:n.348+5271G>A | |
| NM_001320899.2:c.348+5271G>A | NP_001307828.1:n.348+5271G>A | |
| NM_001320900.2:c.348+5271G>A | NP_001307829.1:n.348+5271G>A | |
| NM_001320901.2:c.180+5271G>A | NP_001307830.1:n.180+5271G>A | |
| NM_001354589.2:c.279+94296G>A | NP_001341518.1:n.279+94296G>A | |
| NM_001354590.2:c.279+94296G>A | NP_001341519.1:n.279+94296G>A | |
| NR_135491.2:n.444+5271G>A |