Linked Data
ClinVar Variation Id:
1395751
ClinVar RCV Id:
RCV001891463
dbSNP Id:
rs756695301
ExAC:
19:17953920 T / G
gnomAD v2:
19-17953920-T-G
gnomAD v3:
19-17843111-T-G
gnomAD v4:
19-17843111-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843111T>G , CM000681.2:g.17843111T>G | GRCh38 |
| NC_000019.9:g.17953920T>G , CM000681.1:g.17953920T>G | GRCh37 |
| NC_000019.8:g.17814920T>G | NCBI36 |
| NG_007273.1:g.9881A>C , LRG_77:g.9881A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.482A>C | ENSP00000513006.1:p.Glu161Ala | |
| ENST00000458235.7:c.482A>C MANE Select | ENSP00000391676.1:p.Glu161Ala | |
| ENST00000458235.5:c.482A>C | ENSP00000391676.1:p.Glu161Ala | |
| ENST00000526008.5:n.582A>C | ||
| ENST00000527031.5:n.572A>C | ||
| ENST00000527670.5:c.482A>C | ENSP00000432511.1:p.Glu161Ala | |
| ENST00000528293.1:n.497A>C | ||
| ENST00000534444.1:c.482A>C | ENSP00000436421.1:p.Glu161Ala | |
| NM_000215.3:c.482A>C , LRG_77t1:c.482A>C | NP_000206.2:p.Glu161Ala | |
| XM_005259896.2:c.611A>C | XP_005259953.1:p.Glu204Ala | |
| XM_006722745.2:c.482A>C | XP_006722808.1:p.Glu161Ala | |
| XM_011527990.1:c.611A>C | XP_011526292.1:p.Glu204Ala | |
| XM_011527991.1:c.611A>C | XP_011526293.1:p.Glu204Ala | |
| XR_430137.2:n.621A>C | ||
| XM_005259896.3:c.611A>C | XP_005259953.1:p.Glu204Ala | |
| XM_011527991.2:c.611A>C | XP_011526293.1:p.Glu204Ala | |
| NM_000215.4:c.482A>C MANE Select | NP_000206.2:p.Glu161Ala |