Linked Data
ClinVar Variation Id:
501691
dbSNP Id:
rs1290859259
gnomAD v2:
6-51524031-A-G
gnomAD v4:
6-51659233-A-G
COSMIC:
COSM80346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659233A>G , CM000668.2:g.51659233A>G | GRCh38 |
| NC_000006.11:g.51524031A>G , CM000668.1:g.51524031A>G | GRCh37 |
| NC_000006.10:g.51631990A>G | NCBI36 |
| NG_008753.1:g.433393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10893T>C MANE Select | ENSP00000360158.3:p.Tyr3631= | |
| ENST00000371117.7:c.10893T>C | ENSP00000360158.3:p.Tyr3631= | |
| NM_138694.3:c.10893T>C | NP_619639.3:p.Tyr3631= | |
| XM_011514679.1:c.10893T>C | XP_011512981.1:p.Tyr3631= | |
| XM_011514680.1:c.10893T>C | XP_011512982.1:p.Tyr3631= | |
| XM_011514681.1:c.10764T>C | XP_011512983.1:p.Tyr3588= | |
| XM_011514682.1:c.10755T>C | XP_011512984.1:p.Tyr3585= | |
| XM_011514683.1:c.10251T>C | XP_011512985.1:p.Tyr3417= | |
| XM_011514684.1:c.10182T>C | XP_011512986.1:p.Tyr3394= | |
| XM_011514687.1:c.10157-10013T>C | XP_011512989.1:n.10157-10013T>C | |
| XM_011514690.1:c.4968T>C | XP_011512992.1:p.Tyr1656= | |
| XM_011514691.1:c.4968T>C | XP_011512993.1:p.Tyr1656= | |
| XR_926870.1:n.535+6860A>G | ||
| XR_926871.1:n.403+6860A>G | ||
| XR_926872.1:n.535+6860A>G | ||
| XM_011514680.3:c.10893T>C | XP_011512982.1:p.Tyr3631= | |
| XM_011514682.3:c.10755T>C | XP_011512984.1:p.Tyr3585= | |
| XM_011514683.3:c.10251T>C | XP_011512985.1:p.Tyr3417= | |
| XM_011514684.3:c.10182T>C | XP_011512986.1:p.Tyr3394= | |
| XM_011514690.3:c.4968T>C | XP_011512992.1:p.Tyr1656= | |
| XM_011514691.3:c.4968T>C | XP_011512993.1:p.Tyr1656= | |
| XM_017010944.2:c.10893T>C | XP_016866433.1:p.Tyr3631= | |
| XM_017010945.2:c.10818T>C | XP_016866434.1:p.Tyr3606= | |
| XM_017010946.2:c.10698T>C | XP_016866435.1:p.Tyr3566= | |
| XM_017010947.2:c.10629T>C | XP_016866436.1:p.Tyr3543= | |
| XM_017010948.2:c.10182T>C | XP_016866437.1:p.Tyr3394= | |
| XM_017010949.2:c.9033T>C | XP_016866438.1:p.Tyr3011= | |
| XR_001743469.1:n.11169T>C | ||
| XR_001744157.1:n.3145+6860A>G | ||
| XR_926870.2:n.3145+6860A>G | ||
| XR_926871.2:n.3013+6860A>G | ||
| XR_926872.2:n.3145+6860A>G | ||
| NM_138694.4:c.10893T>C MANE Select | NP_619639.3:p.Tyr3631= |