Linked Data
ClinVar Variation Id:
376949
ClinVar RCV Id:
RCV000440899
dbSNP Id:
rs138750527
ExAC:
2:239160264 A / G
gnomAD v2:
2-239160264-A-G
gnomAD v3:
2-238251623-A-G
gnomAD v4:
2-238251623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238251623A>G , CM000664.2:g.238251623A>G | GRCh38 |
| NC_000002.11:g.239160264A>G , CM000664.1:g.239160264A>G | GRCh37 |
| NC_000002.10:g.238825003A>G | NCBI36 |
| NG_012146.1:g.41944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707129.1:c.3250T>C | ENSP00000516757.1:p.Cys1084Arg | |
| ENST00000707130.1:c.3250T>C | ENSP00000516758.1:p.Cys1084Arg | |
| ENST00000254657.8:c.3250T>C MANE Select | ENSP00000254657.3:p.Cys1084Arg | |
| ENST00000254657.7:c.3250T>C | ENSP00000254657.3:p.Cys1084Arg | |
| NM_022817.2:c.3250T>C | NP_073728.1:p.Cys1084Arg | |
| XM_005246111.3:c.3250T>C | XP_005246168.1:p.Cys1084Arg | |
| XM_006712824.2:c.3250T>C | XP_006712887.1:p.Cys1084Arg | |
| XM_005246111.4:c.3250T>C | XP_005246168.1:p.Cys1084Arg | |
| XM_006712824.4:c.3250T>C | XP_006712887.1:p.Cys1084Arg | |
| NM_022817.3:c.3250T>C MANE Select | NP_073728.1:p.Cys1084Arg |