Linked Data
dbSNP Id:
rs1430740
gnomAD v2:
1-68657510-T-C
gnomAD v3:
1-68191827-T-C
gnomAD v4:
1-68191827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68191827T>C , CM000663.2:g.68191827T>C | GRCh38 |
| NC_000001.10:g.68657510T>C , CM000663.1:g.68657510T>C | GRCh37 |
| NC_000001.9:g.68430098T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262348.9:c.379+2128A>G (WLS) MANE Select | ENSP00000262348.4:n.379+2128A>G | |
| ENST00000262348.8:c.379+2128A>G (WLS) | ENSP00000262348.4:n.379+2128A>G | |
| ENST00000354777.6:c.373+2128A>G (WLS) | ENSP00000346829.2:n.373+2128A>G | |
| ENST00000370973.2:c.-21+2128A>G (WLS) | ENSP00000360012.2:n.-21+2128A>G | |
| ENST00000370976.7:c.107-32580A>G (WLS) | ENSP00000360015.3:n.107-32580A>G | |
| ENST00000471243.2:c.244+2128A>G (WLS) | ENSP00000436196.1:n.244+2128A>G | |
| ENST00000491076.1:c.*297+2128A>G (WLS) | ENSP00000433188.1:n.*297+2128A>G | |
| ENST00000527864.1:c.396+2128A>G (WLS) | ||
| ENST00000530486.5:c.244+2128A>G (WLS) | ENSP00000433111.1:n.244+2128A>G | |
| ENST00000533537.5:c.-20-32580A>G (WLS) | ENSP00000433690.1:n.-20-32580A>G | |
| ENST00000534713.5:c.88-32580A>G (WLS) | ||
| NM_001002292.3:c.373+2128A>G (WLS) | NP_001002292.3:n.373+2128A>G | |
| NM_001193334.1:c.107-32580A>G (WLS) | NP_001180263.1:n.107-32580A>G | |
| NM_024911.6:c.379+2128A>G (WLS) | NP_079187.3:n.379+2128A>G | |
| NR_040077.1:n.1229-10142T>C (GNG12-AS1) | ||
| XM_011542191.1:c.379+2128A>G (WLS) | XP_011540493.1:n.379+2128A>G | |
| XM_011542192.1:c.244+2128A>G (WLS) | XP_011540494.1:n.244+2128A>G | |
| XM_011542191.2:c.379+2128A>G (WLS) | XP_011540493.1:n.379+2128A>G | |
| XM_011542192.3:c.244+2128A>G (WLS) | XP_011540494.1:n.244+2128A>G | |
| XM_017002390.2:c.244+2128A>G (WLS) | XP_016857879.1:n.244+2128A>G | |
| NM_024911.7:c.379+2128A>G (WLS) MANE Select | NP_079187.3:n.379+2128A>G | |
| NM_001002292.4:c.373+2128A>G (WLS) | NP_001002292.3:n.373+2128A>G |