Linked Data
ClinVar Variation Id:
2273195
ClinVar RCV Id:
RCV002822031
dbSNP Id:
rs1727723288
gnomAD v3:
4-145639528-A-G
gnomAD v4:
4-145639528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639528A>G , CM000666.2:g.145639528A>G | GRCh38 |
| NC_000004.11:g.146560680A>G , CM000666.1:g.146560680A>G | GRCh37 |
| NC_000004.10:g.146780130A>G | NCBI36 |
| NG_007536.1:g.25231A>G | |
| NG_007536.2:g.45487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.389A>G | ENSP00000442284.3:p.His130Arg | |
| ENST00000647947.1:c.389A>G | ENSP00000496781.1:p.His130Arg | |
| ENST00000648388.1:c.389A>G | ENSP00000497046.1:p.His130Arg | |
| ENST00000649156.2:c.389A>G MANE Select | ENSP00000497008.1:p.His130Arg | |
| ENST00000649173.1:c.389A>G | ENSP00000497871.1:p.His130Arg | |
| ENST00000649704.1:c.389A>G | ENSP00000497680.1:p.His130Arg | |
| ENST00000679563.1:c.389A>G | ENSP00000506503.1:p.His130Arg | |
| ENST00000679930.1:c.389A>G | ENSP00000506293.1:p.His130Arg | |
| ENST00000281317.9:c.389A>G | ENSP00000281317.5:p.His130Arg | |
| ENST00000506919.1:n.877A>G | ||
| ENST00000511969.4:c.389A>G | ENSP00000427422.1:p.His130Arg | |
| ENST00000541599.4:c.389A>G | ENSP00000442284.2:p.His130Arg | |
| NM_172250.2:c.389A>G | NP_758454.1:p.His130Arg | |
| XM_011531684.1:c.389A>G | XP_011529986.1:p.His130Arg | |
| XM_011531685.1:c.389A>G | XP_011529987.1:p.His130Arg | |
| NM_172250.3:c.389A>G MANE Select | NP_758454.1:p.His130Arg | |
| XM_011531684.3:c.389A>G | XP_011529986.1:p.His130Arg | |
| XM_011531685.2:c.389A>G | XP_011529987.1:p.His130Arg | |
| XM_011531686.2:c.-395A>G | XP_011529988.1:n.-395A>G | |
| NM_001375644.1:c.389A>G | NP_001362573.1:p.His130Arg |