Linked Data
ClinVar Variation Id:
909087
dbSNP Id:
rs147700643
ExAC:
6:51524041 G / A
gnomAD v2:
6-51524041-G-A
gnomAD v3:
6-51659243-G-A
gnomAD v4:
6-51659243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659243G>A , CM000668.2:g.51659243G>A | GRCh38 |
| NC_000006.11:g.51524041G>A , CM000668.1:g.51524041G>A | GRCh37 |
| NC_000006.10:g.51632000G>A | NCBI36 |
| NG_008753.1:g.433383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10883C>T MANE Select | ENSP00000360158.3:p.Thr3628Ile | |
| ENST00000371117.7:c.10883C>T | ENSP00000360158.3:p.Thr3628Ile | |
| NM_138694.3:c.10883C>T | NP_619639.3:p.Thr3628Ile | |
| XM_011514679.1:c.10883C>T | XP_011512981.1:p.Thr3628Ile | |
| XM_011514680.1:c.10883C>T | XP_011512982.1:p.Thr3628Ile | |
| XM_011514681.1:c.10754C>T | XP_011512983.1:p.Thr3585Ile | |
| XM_011514682.1:c.10745C>T | XP_011512984.1:p.Thr3582Ile | |
| XM_011514683.1:c.10241C>T | XP_011512985.1:p.Thr3414Ile | |
| XM_011514684.1:c.10172C>T | XP_011512986.1:p.Thr3391Ile | |
| XM_011514687.1:c.10157-10023C>T | XP_011512989.1:n.10157-10023C>T | |
| XM_011514690.1:c.4958C>T | XP_011512992.1:p.Thr1653Ile | |
| XM_011514691.1:c.4958C>T | XP_011512993.1:p.Thr1653Ile | |
| XR_926870.1:n.535+6870G>A | ||
| XR_926871.1:n.403+6870G>A | ||
| XR_926872.1:n.535+6870G>A | ||
| XM_011514680.3:c.10883C>T | XP_011512982.1:p.Thr3628Ile | |
| XM_011514682.3:c.10745C>T | XP_011512984.1:p.Thr3582Ile | |
| XM_011514683.3:c.10241C>T | XP_011512985.1:p.Thr3414Ile | |
| XM_011514684.3:c.10172C>T | XP_011512986.1:p.Thr3391Ile | |
| XM_011514690.3:c.4958C>T | XP_011512992.1:p.Thr1653Ile | |
| XM_011514691.3:c.4958C>T | XP_011512993.1:p.Thr1653Ile | |
| XM_017010944.2:c.10883C>T | XP_016866433.1:p.Thr3628Ile | |
| XM_017010945.2:c.10808C>T | XP_016866434.1:p.Thr3603Ile | |
| XM_017010946.2:c.10688C>T | XP_016866435.1:p.Thr3563Ile | |
| XM_017010947.2:c.10619C>T | XP_016866436.1:p.Thr3540Ile | |
| XM_017010948.2:c.10172C>T | XP_016866437.1:p.Thr3391Ile | |
| XM_017010949.2:c.9023C>T | XP_016866438.1:p.Thr3008Ile | |
| XR_001743469.1:n.11159C>T | ||
| XR_001744157.1:n.3145+6870G>A | ||
| XR_926870.2:n.3145+6870G>A | ||
| XR_926871.2:n.3013+6870G>A | ||
| XR_926872.2:n.3145+6870G>A | ||
| NM_138694.4:c.10883C>T MANE Select | NP_619639.3:p.Thr3628Ile |