Linked Data
ClinVar Variation Id:
497601
dbSNP Id:
rs114237522
ExAC:
6:51523922 C / A
gnomAD v2:
6-51523922-C-A
gnomAD v3:
6-51659124-C-A
gnomAD v4:
6-51659124-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659124C>A , CM000668.2:g.51659124C>A | GRCh38 |
| NC_000006.11:g.51523922C>A , CM000668.1:g.51523922C>A | GRCh37 |
| NC_000006.10:g.51631881C>A | NCBI36 |
| NG_008753.1:g.433502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11002G>T MANE Select | ENSP00000360158.3:p.Asp3668Tyr | |
| ENST00000371117.7:c.11002G>T | ENSP00000360158.3:p.Asp3668Tyr | |
| NM_138694.3:c.11002G>T | NP_619639.3:p.Asp3668Tyr | |
| XM_011514679.1:c.11002G>T | XP_011512981.1:p.Asp3668Tyr | |
| XM_011514680.1:c.11002G>T | XP_011512982.1:p.Asp3668Tyr | |
| XM_011514681.1:c.10873G>T | XP_011512983.1:p.Asp3625Tyr | |
| XM_011514682.1:c.10864G>T | XP_011512984.1:p.Asp3622Tyr | |
| XM_011514683.1:c.10360G>T | XP_011512985.1:p.Asp3454Tyr | |
| XM_011514684.1:c.10291G>T | XP_011512986.1:p.Asp3431Tyr | |
| XM_011514687.1:c.10157-9904G>T | XP_011512989.1:n.10157-9904G>T | |
| XM_011514690.1:c.5077G>T | XP_011512992.1:p.Asp1693Tyr | |
| XM_011514691.1:c.5077G>T | XP_011512993.1:p.Asp1693Tyr | |
| XR_926870.1:n.535+6751C>A | ||
| XR_926871.1:n.403+6751C>A | ||
| XR_926872.1:n.535+6751C>A | ||
| XM_011514680.3:c.11002G>T | XP_011512982.1:p.Asp3668Tyr | |
| XM_011514682.3:c.10864G>T | XP_011512984.1:p.Asp3622Tyr | |
| XM_011514683.3:c.10360G>T | XP_011512985.1:p.Asp3454Tyr | |
| XM_011514684.3:c.10291G>T | XP_011512986.1:p.Asp3431Tyr | |
| XM_011514690.3:c.5077G>T | XP_011512992.1:p.Asp1693Tyr | |
| XM_011514691.3:c.5077G>T | XP_011512993.1:p.Asp1693Tyr | |
| XM_017010944.2:c.11002G>T | XP_016866433.1:p.Asp3668Tyr | |
| XM_017010945.2:c.10927G>T | XP_016866434.1:p.Asp3643Tyr | |
| XM_017010946.2:c.10807G>T | XP_016866435.1:p.Asp3603Tyr | |
| XM_017010947.2:c.10738G>T | XP_016866436.1:p.Asp3580Tyr | |
| XM_017010948.2:c.10291G>T | XP_016866437.1:p.Asp3431Tyr | |
| XM_017010949.2:c.9142G>T | XP_016866438.1:p.Asp3048Tyr | |
| XR_001743469.1:n.11278G>T | ||
| XR_001744157.1:n.3145+6751C>A | ||
| XR_926870.2:n.3145+6751C>A | ||
| XR_926871.2:n.3013+6751C>A | ||
| XR_926872.2:n.3145+6751C>A | ||
| NM_138694.4:c.11002G>T MANE Select | NP_619639.3:p.Asp3668Tyr |