Linked Data
dbSNP Id:
rs778518101
ExAC:
5:56178236 C / G
gnomAD v2:
5-56178236-C-G
gnomAD v3:
5-56882409-C-G
gnomAD v4:
5-56882409-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882409C>G , CM000667.2:g.56882409C>G | GRCh38 |
| NC_000005.9:g.56178236C>G , CM000667.1:g.56178236C>G | GRCh37 |
| NC_000005.8:g.56213993C>G | NCBI36 |
| NG_031884.1:g.72337C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3209C>G MANE Select | ENSP00000382423.3:p.Thr1070Arg | |
| ENST00000399503.3:c.3209C>G | ENSP00000382423.3:p.Thr1070Arg | |
| NM_005921.1:c.3209C>G | NP_005912.1:p.Thr1070Arg | |
| XM_005248519.3:c.2831C>G | XP_005248576.2:p.Thr944Arg | |
| XM_011543406.1:c.2954C>G | XP_011541708.1:p.Thr985Arg | |
| XM_011543407.1:c.2930C>G | XP_011541709.1:p.Thr977Arg | |
| XM_011543408.1:c.3209C>G | XP_011541710.1:p.Thr1070Arg | |
| XM_017009484.1:c.2798C>G | XP_016864973.1:p.Thr933Arg | |
| XM_017009485.1:c.2720C>G | XP_016864974.1:p.Thr907Arg | |
| XR_001742068.2:n.3240C>G | ||
| NM_005921.2:c.3209C>G MANE Select | NP_005912.1:p.Thr1070Arg |