Linked Data
dbSNP Id:
rs12205363
gnomAD v2:
6-129834629-T-C
gnomAD v3:
6-129513484-T-C
gnomAD v4:
6-129513484-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129513484T>C , CM000668.2:g.129513484T>C | GRCh38 |
| NC_000006.11:g.129834629T>C , CM000668.1:g.129834629T>C | GRCh37 |
| NC_000006.10:g.129876322T>C | NCBI36 |
| NG_008678.1:g.635344T>C , LRG_409:g.635344T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494137.2:c.1054-889T>C | ENSP00000510626.1:n.1054-889T>C | |
| ENST00000498257.6:c.1054-889T>C | ENSP00000510533.1:n.1054-889T>C | |
| ENST00000617695.5:c.8977-889T>C | ENSP00000481744.2:n.8977-889T>C | |
| ENST00000618192.5:c.9253-889T>C | ENSP00000480802.2:n.9253-889T>C | |
| ENST00000688198.1:n.1967-889T>C | ||
| ENST00000688799.1:c.1054-889T>C | ENSP00000508458.1:n.1054-889T>C | |
| ENST00000690858.1:n.2973T>C | ||
| ENST00000693461.1:n.1326-889T>C | ||
| ENST00000421865.3:c.8989-889T>C MANE Select | ENSP00000400365.2:n.8989-889T>C | |
| ENST00000421865.2:c.8989-889T>C | ENSP00000400365.2:n.8989-889T>C | |
| ENST00000617695.4:c.8977-889T>C | ENSP00000481744.1:n.8977-889T>C | |
| ENST00000618192.4:c.8986-889T>C | ENSP00000480802.1:n.8986-889T>C | |
| NM_000426.3:c.8989-889T>C , LRG_409t1:c.8989-889T>C | NP_000417.2:n.8989-889T>C | |
| NM_001079823.1:c.8977-889T>C | NP_001073291.1:n.8977-889T>C | |
| XM_005266981.2:c.9253-889T>C | XP_005267038.1:n.9253-889T>C | |
| XM_005266982.2:c.9241-889T>C | XP_005267039.1:n.9241-889T>C | |
| XM_011535820.1:c.9247-889T>C | XP_011534122.1:n.9247-889T>C | |
| XR_942984.1:n.1460+8993A>G | ||
| XR_942985.1:n.1324+8993A>G | ||
| XM_005266981.3:c.9253-889T>C | XP_005267038.1:n.9253-889T>C | |
| XM_005266982.3:c.9241-889T>C | XP_005267039.1:n.9241-889T>C | |
| XM_011535820.2:c.9247-889T>C | XP_011534122.1:n.9247-889T>C | |
| XM_017010851.2:c.9259-889T>C | XP_016866340.1:n.9259-889T>C | |
| XM_017010852.1:c.7384-889T>C | XP_016866341.1:n.7384-889T>C | |
| XR_001743859.1:n.3900+8993A>G | ||
| XR_001743860.1:n.1179+8993A>G | ||
| XR_001743861.1:n.1346+8993A>G | ||
| XR_001743863.1:n.883-10693A>G | ||
| XR_002956395.1:n.9131+8993A>G | ||
| XR_002956396.1:n.3126+8993A>G | ||
| NM_000426.4:c.8989-889T>C MANE Select | NP_000417.3:n.8989-889T>C | |
| NM_001079823.2:c.8977-889T>C | NP_001073291.2:n.8977-889T>C |