Linked Data
dbSNP Id:
rs10495582
gnomAD v2:
2-11354308-G-C
gnomAD v3:
2-11214182-G-C
gnomAD v4:
2-11214182-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11214182G>C , CM000664.2:g.11214182G>C | GRCh38 |
| NC_000002.11:g.11354308G>C , CM000664.1:g.11354308G>C | GRCh37 |
| NC_000002.10:g.11271759G>C | NCBI36 |
| NG_029769.1:g.135404C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697752.1:c.2043+175C>G | ENSP00000513431.1:n.2043+175C>G | |
| ENST00000697790.1:c.354+175C>G | ENSP00000513442.1:n.354+175C>G | |
| ENST00000697791.1:n.2403+175C>G | ||
| ENST00000697792.1:n.2403+175C>G | ||
| ENST00000315872.11:c.2043+175C>G MANE Select | ENSP00000317985.6:n.2043+175C>G | |
| ENST00000315872.10:c.2043+175C>G | ENSP00000317985.6:n.2043+175C>G | |
| ENST00000401753.5:c.1314+175C>G | ENSP00000385509.1:n.1314+175C>G | |
| ENST00000616279.4:c.-13+175C>G | ENSP00000481789.1:n.-13+175C>G | |
| NM_004850.3:c.2043+175C>G | NP_004841.2:n.2043+175C>G | |
| XM_005246190.3:c.2043+175C>G | XP_005246247.1:n.2043+175C>G | |
| XM_011510417.1:c.1785+175C>G | XP_011508719.1:n.1785+175C>G | |
| NM_001321643.1:c.1785+175C>G | NP_001308572.1:n.1785+175C>G | |
| NM_004850.4:c.2043+175C>G | NP_004841.2:n.2043+175C>G | |
| XM_011510417.2:c.1785+175C>G | XP_011508719.1:n.1785+175C>G | |
| XM_017005378.2:c.2043+175C>G | XP_016860867.1:n.2043+175C>G | |
| XM_017005379.2:c.1785+175C>G | XP_016860868.1:n.1785+175C>G | |
| NM_004850.5:c.2043+175C>G MANE Select | NP_004841.2:n.2043+175C>G | |
| NM_001321643.2:c.1785+175C>G | NP_001308572.1:n.1785+175C>G |