Linked Data
ClinVar Variation Id:
252471
dbSNP Id:
rs144405201
ExAC:
19:17954707 T / C
gnomAD v2:
19-17954707-T-C
gnomAD v3:
19-17843898-T-C
gnomAD v4:
19-17843898-T-C
ERepo:
CA9302225/MONDO:0010938/121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843898T>C , CM000681.2:g.17843898T>C | GRCh38 |
| NC_000019.9:g.17954707T>C , CM000681.1:g.17954707T>C | GRCh37 |
| NC_000019.8:g.17815707T>C | NCBI36 |
| NG_007273.1:g.9094A>G , LRG_77:g.9094A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.187A>G | ENSP00000513006.1:p.Ile63Val | |
| ENST00000458235.7:c.187A>G MANE Select | ENSP00000391676.1:p.Ile63Val | |
| ENST00000458235.5:c.187A>G | ENSP00000391676.1:p.Ile63Val | |
| ENST00000526008.5:n.287A>G | ||
| ENST00000527031.5:n.277A>G | ||
| ENST00000527670.5:c.187A>G | ENSP00000432511.1:p.Ile63Val | |
| ENST00000528293.1:n.323+336A>G | ||
| ENST00000534444.1:c.187A>G | ENSP00000436421.1:p.Ile63Val | |
| NM_000215.3:c.187A>G , LRG_77t1:c.187A>G | NP_000206.2:p.Ile63Val | |
| XM_005259896.2:c.316A>G | XP_005259953.1:p.Ile106Val | |
| XM_006722745.2:c.187A>G | XP_006722808.1:p.Ile63Val | |
| XM_011527990.1:c.316A>G | XP_011526292.1:p.Ile106Val | |
| XM_011527991.1:c.316A>G | XP_011526293.1:p.Ile106Val | |
| XR_430137.2:n.326A>G | ||
| XM_005259896.3:c.316A>G | XP_005259953.1:p.Ile106Val | |
| XM_011527991.2:c.316A>G | XP_011526293.1:p.Ile106Val | |
| NM_000215.4:c.187A>G MANE Select | NP_000206.2:p.Ile63Val |