Linked Data
ClinVar Variation Id:
2828456
ClinVar RCV Id:
RCV003608045
gnomAD v4:
12-109561068-G-T
MyVariant Identifiers:
chr12:g.109998873G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561068G>T , CM000674.2:g.109561068G>T | GRCh38 |
| NC_000012.11:g.109998873G>T , CM000674.1:g.109998873G>T | GRCh37 |
| NC_000012.10:g.108483256G>T | NCBI36 |
| NG_007096.1:g.17430C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.556C>A MANE Select | ENSP00000445920.1:p.Arg186= | |
| ENST00000537496.5:c.*121C>A | ENSP00000444793.1:n.*121C>A | |
| ENST00000540016.5:c.400C>A | ENSP00000474582.1:p.Arg134= | |
| ENST00000541763.6:c.781C>A | ENSP00000474981.1:n.781C>A | |
| ENST00000544051.5:c.*437C>A | ENSP00000438079.1:n.*437C>A | |
| ENST00000545712.6:c.556C>A | ENSP00000445920.1:p.Arg186= | |
| NM_052845.3:c.556C>A | NP_443077.1:p.Arg186= | |
| NR_038118.1:n.716C>A | ||
| XM_011538266.1:c.401C>A | XP_011536568.1:p.Pro134Gln | |
| XM_011538267.1:c.401C>A | XP_011536569.1:p.Pro134Gln | |
| XM_011538268.1:c.283C>A | XP_011536570.1:p.Arg95= | |
| XM_011538269.1:c.280C>A | XP_011536571.1:p.Arg94= | |
| XM_011538267.3:c.401C>A | XP_011536569.1:p.Pro134Gln | |
| XM_011538268.2:c.283C>A | XP_011536570.1:p.Arg95= | |
| XM_011538269.2:c.280C>A | XP_011536571.1:p.Arg94= | |
| XM_024448961.1:c.556C>A | XP_024304729.1:p.Arg186= | |
| NM_052845.4:c.556C>A MANE Select | NP_443077.1:p.Arg186= | |
| NR_038118.2:n.667C>A |