Linked Data
dbSNP Id:
rs10061997
gnomAD v2:
5-150658987-T-C
gnomAD v3:
5-151279426-T-C
gnomAD v4:
5-151279426-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151279426T>C , CM000667.2:g.151279426T>C | GRCh38 |
| NC_000005.9:g.150658987T>C , CM000667.1:g.150658987T>C | GRCh37 |
| NC_000005.8:g.150639180T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335230.8:c.1144+1588A>G MANE Select | ENSP00000334750.3:n.1144+1588A>G | |
| ENST00000335230.7:c.1144+1588A>G | ENSP00000334750.3:n.1144+1588A>G | |
| ENST00000377713.3:c.1267+1588A>G | ENSP00000366942.3:n.1267+1588A>G | |
| ENST00000423071.2:n.3044+1588A>G | ||
| NM_001145017.1:c.1267+1588A>G | NP_001138489.1:n.1267+1588A>G | |
| NM_181774.3:c.1144+1588A>G | NP_861439.3:n.1144+1588A>G | |
| XM_006714781.1:c.995-1765A>G | XP_006714844.1:n.995-1765A>G | |
| XM_011537626.1:c.1138+1588A>G | XP_011535928.1:n.1138+1588A>G | |
| XM_011537627.1:c.1066+1588A>G | XP_011535929.1:n.1066+1588A>G | |
| XM_011537628.1:c.1000+1588A>G | XP_011535930.1:n.1000+1588A>G | |
| XM_011537629.1:c.975-1765A>G | XP_011535931.1:n.975-1765A>G | |
| XM_011537630.1:c.799+1588A>G | XP_011535932.1:n.799+1588A>G | |
| XM_011537631.1:c.799+1588A>G | XP_011535933.1:n.799+1588A>G | |
| XM_011537632.1:c.799+1588A>G | XP_011535934.1:n.799+1588A>G | |
| XM_011537633.1:c.655+1588A>G | XP_011535935.1:n.655+1588A>G | |
| XR_427775.1:n.1592+1588A>G | ||
| XM_011537627.3:c.1066+1588A>G | XP_011535929.1:n.1066+1588A>G | |
| XM_011537629.3:c.975-1765A>G | XP_011535931.1:n.975-1765A>G | |
| XM_011537630.2:c.799+1588A>G | XP_011535932.1:n.799+1588A>G | |
| XM_011537631.2:c.799+1588A>G | XP_011535933.1:n.799+1588A>G | |
| XR_427775.3:n.1576+1588A>G | ||
| NM_001145017.2:c.1267+1588A>G | NP_001138489.1:n.1267+1588A>G | |
| NM_181774.4:c.1144+1588A>G MANE Select | NP_861439.3:n.1144+1588A>G |