Linked Data
ClinVar Variation Id:
418264
ClinVar RCV Id:
RCV000481431
dbSNP Id:
rs1064793156
gnomAD v2:
19-17954676-A-C
gnomAD v3:
19-17843867-A-C
gnomAD v4:
19-17843867-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843867A>C , CM000681.2:g.17843867A>C | GRCh38 |
| NC_000019.9:g.17954676A>C , CM000681.1:g.17954676A>C | GRCh37 |
| NC_000019.8:g.17815676A>C | NCBI36 |
| NG_007273.1:g.9125T>G , LRG_77:g.9125T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.218T>G | ENSP00000513006.1:p.Leu73Arg | |
| ENST00000458235.7:c.218T>G MANE Select | ENSP00000391676.1:p.Leu73Arg | |
| ENST00000458235.5:c.218T>G | ENSP00000391676.1:p.Leu73Arg | |
| ENST00000526008.5:n.318T>G | ||
| ENST00000527031.5:n.308T>G | ||
| ENST00000527670.5:c.218T>G | ENSP00000432511.1:p.Leu73Arg | |
| ENST00000528293.1:n.323+367T>G | ||
| ENST00000534444.1:c.218T>G | ENSP00000436421.1:p.Leu73Arg | |
| NM_000215.3:c.218T>G , LRG_77t1:c.218T>G | NP_000206.2:p.Leu73Arg | |
| XM_005259896.2:c.347T>G | XP_005259953.1:p.Leu116Arg | |
| XM_006722745.2:c.218T>G | XP_006722808.1:p.Leu73Arg | |
| XM_011527990.1:c.347T>G | XP_011526292.1:p.Leu116Arg | |
| XM_011527991.1:c.347T>G | XP_011526293.1:p.Leu116Arg | |
| XR_430137.2:n.357T>G | ||
| XM_005259896.3:c.347T>G | XP_005259953.1:p.Leu116Arg | |
| XM_011527991.2:c.347T>G | XP_011526293.1:p.Leu116Arg | |
| NM_000215.4:c.218T>G MANE Select | NP_000206.2:p.Leu73Arg |