Linked Data
dbSNP Id:
rs202164851
ExAC:
19:17954220 T / G
gnomAD v2:
19-17954220-T-G
gnomAD v3:
19-17843411-T-G
gnomAD v4:
19-17843411-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843411T>G , CM000681.2:g.17843411T>G | GRCh38 |
| NC_000019.9:g.17954220T>G , CM000681.1:g.17954220T>G | GRCh37 |
| NC_000019.8:g.17815220T>G | NCBI36 |
| NG_007273.1:g.9581A>C , LRG_77:g.9581A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.389A>C | ENSP00000513006.1:p.Asp130Ala | |
| ENST00000458235.7:c.389A>C MANE Select | ENSP00000391676.1:p.Asp130Ala | |
| ENST00000458235.5:c.389A>C | ENSP00000391676.1:p.Asp130Ala | |
| ENST00000526008.5:n.489A>C | ||
| ENST00000527031.5:n.479A>C | ||
| ENST00000527670.5:c.389A>C | ENSP00000432511.1:p.Asp130Ala | |
| ENST00000528293.1:n.404A>C | ||
| ENST00000534444.1:c.389A>C | ENSP00000436421.1:p.Asp130Ala | |
| NM_000215.3:c.389A>C , LRG_77t1:c.389A>C | NP_000206.2:p.Asp130Ala | |
| XM_005259896.2:c.518A>C | XP_005259953.1:p.Asp173Ala | |
| XM_006722745.2:c.389A>C | XP_006722808.1:p.Asp130Ala | |
| XM_011527990.1:c.518A>C | XP_011526292.1:p.Asp173Ala | |
| XM_011527991.1:c.518A>C | XP_011526293.1:p.Asp173Ala | |
| XR_430137.2:n.528A>C | ||
| XM_005259896.3:c.518A>C | XP_005259953.1:p.Asp173Ala | |
| XM_011527991.2:c.518A>C | XP_011526293.1:p.Asp173Ala | |
| NM_000215.4:c.389A>C MANE Select | NP_000206.2:p.Asp130Ala |