Linked Data
dbSNP Id:
rs1574091
gnomAD v2:
3-192082082-T-C
gnomAD v3:
3-192364293-T-C
gnomAD v4:
3-192364293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.192364293T>C , CM000665.2:g.192364293T>C | GRCh38 |
| NC_000003.11:g.192082082T>C , CM000665.1:g.192082082T>C | GRCh37 |
| NC_000003.10:g.193564776T>C | NCBI36 |
| NG_051966.1:g.368307A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454309.7:c.200-3755A>G | ENSP00000413496.2:n.200-3755A>G | |
| ENST00000682819.2:n.267-3755A>G | ||
| ENST00000683451.2:c.14-3755A>G | ENSP00000508366.1:n.14-3755A>G | |
| ENST00000682572.1:n.202-3755A>G | ||
| ENST00000682819.1:n.233-3755A>G | ||
| ENST00000683451.1:c.14-3755A>G | ENSP00000508366.1:n.14-3755A>G | |
| ENST00000683935.1:c.14-3755A>G | ENSP00000507098.1:n.14-3755A>G | |
| ENST00000684282.1:c.-59-3755A>G | ENSP00000507149.1:n.-59-3755A>G | |
| ENST00000684728.1:c.-59-3755A>G | ENSP00000506839.1:n.-59-3755A>G | |
| ENST00000445105.7:c.14-3755A>G MANE Select | ENSP00000393686.1:n.14-3755A>G | |
| ENST00000418610.1:c.14-3755A>G | ENSP00000395517.1:n.14-3755A>G | |
| ENST00000430714.5:c.14-28829A>G | ENSP00000410125.1:n.14-28829A>G | |
| ENST00000445105.6:c.14-3755A>G | ENSP00000393686.1:n.14-3755A>G | |
| ENST00000448795.5:c.-59-3755A>G | ENSP00000412904.1:n.-59-3755A>G | |
| ENST00000450716.5:c.14-3755A>G | ENSP00000397635.1:n.14-3755A>G | |
| ENST00000454309.6:c.200-3755A>G | ENSP00000413496.2:n.200-3755A>G | |
| NM_004113.5:c.14-3755A>G | NP_004104.3:n.14-3755A>G | |
| NM_021032.4:c.200-3755A>G | NP_066360.1:n.200-3755A>G | |
| XM_005247227.1:c.92-3755A>G | XP_005247284.1:n.92-3755A>G | |
| XM_006713538.2:c.5-3755A>G | XP_006713601.1:n.5-3755A>G | |
| XM_005247227.2:c.92-3755A>G | XP_005247284.1:n.92-3755A>G | |
| XM_006713538.3:c.5-3755A>G | XP_006713601.1:n.5-3755A>G | |
| NM_001377292.1:c.14-28829A>G | NP_001364221.1:n.14-28829A>G | |
| NM_001377293.1:c.-59-3755A>G | NP_001364222.1:n.-59-3755A>G | |
| NM_001377294.1:c.-59-3755A>G | NP_001364223.1:n.-59-3755A>G | |
| NM_004113.6:c.14-3755A>G MANE Select | NP_004104.3:n.14-3755A>G | |
| NM_021032.5:c.200-3755A>G | NP_066360.1:n.200-3755A>G |