Linked Data
ClinVar Variation Id:
199098
dbSNP Id:
rs142386992
ExAC:
9:94486696 A / G
gnomAD v2:
9-94486696-A-G
gnomAD v3:
9-91724414-A-G
gnomAD v4:
9-91724414-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724414A>G , CM000671.2:g.91724414A>G | GRCh38 |
| NC_000009.11:g.94486696A>G , CM000671.1:g.94486696A>G | GRCh37 |
| NC_000009.10:g.93526517A>G | NCBI36 |
| NG_008089.1:g.230749T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2080T>C MANE Select | ENSP00000364860.3:p.Cys694Arg | |
| ENST00000375708.3:c.2080T>C | ENSP00000364860.3:p.Cys694Arg | |
| ENST00000375715.5:c.1660T>C | ENSP00000364867.1:p.Cys554Arg | |
| ENST00000550066.5:n.2548T>C | ||
| NM_004560.3:c.2080T>C | NP_004551.2:p.Cys694Arg | |
| XM_005252008.3:c.1660T>C | XP_005252065.1:p.Cys554Arg | |
| XM_005252009.3:c.877T>C | XP_005252066.1:p.Cys293Arg | |
| XM_006717121.2:c.1660T>C | XP_006717184.1:p.Cys554Arg | |
| XM_011518721.1:c.1660T>C | XP_011517023.1:p.Cys554Arg | |
| XM_005252008.4:c.1660T>C | XP_005252065.1:p.Cys554Arg | |
| XM_006717121.3:c.1660T>C | XP_006717184.1:p.Cys554Arg | |
| XM_017014762.1:c.2071T>C | XP_016870251.1:p.Cys691Arg | |
| XM_017014763.1:c.1660T>C | XP_016870252.1:p.Cys554Arg | |
| NM_004560.4:c.2080T>C MANE Select | NP_004551.2:p.Cys694Arg |