Linked Data
ClinVar Variation Id:
458589
dbSNP Id:
rs1165946143
gnomAD v3:
6-51619423-T-C
gnomAD v4:
6-51619423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619423T>C , CM000668.2:g.51619423T>C | GRCh38 |
| NC_000006.11:g.51484221T>C , CM000668.1:g.51484221T>C | GRCh37 |
| NC_000006.10:g.51592180T>C | NCBI36 |
| NG_008753.1:g.473203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11883A>G MANE Select | ENSP00000360158.3:p.Arg3961= | |
| ENST00000371117.7:c.11883A>G | ENSP00000360158.3:p.Arg3961= | |
| NM_138694.3:c.11883A>G | NP_619639.3:p.Arg3961= | |
| XM_011514679.1:c.11883A>G | XP_011512981.1:p.Arg3961= | |
| XM_011514680.1:c.11883A>G | XP_011512982.1:p.Arg3961= | |
| XM_011514681.1:c.11754A>G | XP_011512983.1:p.Arg3918= | |
| XM_011514682.1:c.11745A>G | XP_011512984.1:p.Arg3915= | |
| XM_011514683.1:c.11241A>G | XP_011512985.1:p.Arg3747= | |
| XM_011514684.1:c.11172A>G | XP_011512986.1:p.Arg3724= | |
| XM_011514690.1:c.5958A>G | XP_011512992.1:p.Arg1986= | |
| XM_011514691.1:c.5958A>G | XP_011512993.1:p.Arg1986= | |
| XM_011514680.3:c.11883A>G | XP_011512982.1:p.Arg3961= | |
| XM_011514682.3:c.11745A>G | XP_011512984.1:p.Arg3915= | |
| XM_011514683.3:c.11241A>G | XP_011512985.1:p.Arg3747= | |
| XM_011514684.3:c.11172A>G | XP_011512986.1:p.Arg3724= | |
| XM_011514690.3:c.5958A>G | XP_011512992.1:p.Arg1986= | |
| XM_011514691.3:c.5958A>G | XP_011512993.1:p.Arg1986= | |
| XM_017010944.2:c.11883A>G | XP_016866433.1:p.Arg3961= | |
| XM_017010945.2:c.11808A>G | XP_016866434.1:p.Arg3936= | |
| XM_017010946.2:c.11688A>G | XP_016866435.1:p.Arg3896= | |
| XM_017010947.2:c.11619A>G | XP_016866436.1:p.Arg3873= | |
| XM_017010948.2:c.11172A>G | XP_016866437.1:p.Arg3724= | |
| XM_017010949.2:c.10023A>G | XP_016866438.1:p.Arg3341= | |
| NM_138694.4:c.11883A>G MANE Select | NP_619639.3:p.Arg3961= |