Linked Data
ClinVar Variation Id:
1511765
ClinVar RCV Id:
RCV002020579
dbSNP Id:
rs781368899
gnomAD v3:
6-51659907-G-C
gnomAD v4:
6-51659907-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659907G>C , CM000668.2:g.51659907G>C | GRCh38 |
| NC_000006.11:g.51524705G>C , CM000668.1:g.51524705G>C | GRCh37 |
| NC_000006.10:g.51632664G>C | NCBI36 |
| NG_008753.1:g.432719C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10219C>G MANE Select | ENSP00000360158.3:p.Gln3407Glu | |
| ENST00000371117.7:c.10219C>G | ENSP00000360158.3:p.Gln3407Glu | |
| NM_138694.3:c.10219C>G | NP_619639.3:p.Gln3407Glu | |
| XM_011514679.1:c.10219C>G | XP_011512981.1:p.Gln3407Glu | |
| XM_011514680.1:c.10219C>G | XP_011512982.1:p.Gln3407Glu | |
| XM_011514681.1:c.10090C>G | XP_011512983.1:p.Gln3364Glu | |
| XM_011514682.1:c.10081C>G | XP_011512984.1:p.Gln3361Glu | |
| XM_011514683.1:c.9577C>G | XP_011512985.1:p.Gln3193Glu | |
| XM_011514684.1:c.9508C>G | XP_011512986.1:p.Gln3170Glu | |
| XM_011514687.1:c.10157-10687C>G | XP_011512989.1:n.10157-10687C>G | |
| XM_011514690.1:c.4294C>G | XP_011512992.1:p.Gln1432Glu | |
| XM_011514691.1:c.4294C>G | XP_011512993.1:p.Gln1432Glu | |
| XR_926870.1:n.535+7534G>C | ||
| XR_926871.1:n.403+7534G>C | ||
| XR_926872.1:n.535+7534G>C | ||
| XM_011514680.3:c.10219C>G | XP_011512982.1:p.Gln3407Glu | |
| XM_011514682.3:c.10081C>G | XP_011512984.1:p.Gln3361Glu | |
| XM_011514683.3:c.9577C>G | XP_011512985.1:p.Gln3193Glu | |
| XM_011514684.3:c.9508C>G | XP_011512986.1:p.Gln3170Glu | |
| XM_011514690.3:c.4294C>G | XP_011512992.1:p.Gln1432Glu | |
| XM_011514691.3:c.4294C>G | XP_011512993.1:p.Gln1432Glu | |
| XM_017010944.2:c.10219C>G | XP_016866433.1:p.Gln3407Glu | |
| XM_017010945.2:c.10144C>G | XP_016866434.1:p.Gln3382Glu | |
| XM_017010946.2:c.10024C>G | XP_016866435.1:p.Gln3342Glu | |
| XM_017010947.2:c.9955C>G | XP_016866436.1:p.Gln3319Glu | |
| XM_017010948.2:c.9508C>G | XP_016866437.1:p.Gln3170Glu | |
| XM_017010949.2:c.8359C>G | XP_016866438.1:p.Gln2787Glu | |
| XR_001743469.1:n.10495C>G | ||
| XR_001744157.1:n.3145+7534G>C | ||
| XR_926870.2:n.3145+7534G>C | ||
| XR_926871.2:n.3013+7534G>C | ||
| XR_926872.2:n.3145+7534G>C | ||
| NM_138694.4:c.10219C>G MANE Select | NP_619639.3:p.Gln3407Glu |