Linked Data
ClinVar Variation Id:
315988
dbSNP Id:
rs146515654
ExAC:
15:43045234 A / G
gnomAD v2:
15-43045234-A-G
gnomAD v3:
15-42753036-A-G
gnomAD v4:
15-42753036-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42753036A>G , CM000677.2:g.42753036A>G | GRCh38 |
| NC_000015.9:g.43045234A>G , CM000677.1:g.43045234A>G | GRCh37 |
| NC_000015.8:g.40832526A>G | NCBI36 |
| NG_012664.1:g.172774T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267890.11:c.2210T>C MANE Select | ENSP00000267890.6:p.Ile737Thr | |
| ENST00000267890.10:c.2210T>C | ENSP00000267890.6:p.Ile737Thr | |
| ENST00000622375.4:c.3425T>C | ENSP00000479984.1:p.Ile1142Thr | |
| NM_173500.3:c.2210T>C | NP_775771.3:p.Ile737Thr | |
| XM_005254171.3:c.2228T>C | XP_005254228.1:p.Ile743Thr | |
| XM_005254173.3:c.2003T>C | XP_005254230.1:p.Ile668Thr | |
| XM_006720402.2:c.2195T>C | XP_006720465.1:p.Ile732Thr | |
| XM_006720403.2:c.2003T>C | XP_006720466.1:p.Ile668Thr | |
| XM_011521267.1:c.2003T>C | XP_011519569.1:p.Ile668Thr | |
| XM_011521268.1:c.1943T>C | XP_011519570.1:p.Ile648Thr | |
| XM_011521269.1:c.1931T>C | XP_011519571.1:p.Ile644Thr | |
| XM_005254171.5:c.2228T>C | XP_005254228.1:p.Ile743Thr | |
| XM_005254173.5:c.2003T>C | XP_005254230.1:p.Ile668Thr | |
| XM_006720402.4:c.2195T>C | XP_006720465.1:p.Ile732Thr | |
| XM_006720403.4:c.2003T>C | XP_006720466.1:p.Ile668Thr | |
| XM_017021950.2:c.1931T>C | XP_016877439.1:p.Ile644Thr | |
| XM_024449849.1:c.2210T>C | XP_024305617.1:p.Ile737Thr | |
| XM_024449850.1:c.2210T>C | XP_024305618.1:p.Ile737Thr | |
| XM_024449851.1:c.2003T>C | XP_024305619.1:p.Ile668Thr | |
| NM_173500.4:c.2210T>C MANE Select | NP_775771.3:p.Ile737Thr |