Linked Data
ClinVar Variation Id:
2407085
ClinVar RCV Id:
RCV004242001
dbSNP Id:
rs773966382
ExAC:
2:224862898 C / T
gnomAD v2:
2-224862898-C-T
gnomAD v3:
2-223998181-C-T
gnomAD v4:
2-223998181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223998181C>T , CM000664.2:g.223998181C>T | GRCh38 |
| NC_000002.11:g.224862898C>T , CM000664.1:g.224862898C>T | GRCh37 |
| NC_000002.10:g.224571142C>T | NCBI36 |
| NG_032907.1:g.46139G>A | |
| NG_032907.2:g.46139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.421G>A | ENSP00000258405.4:p.Val141Met | |
| ENST00000409304.6:c.421G>A MANE Select | ENSP00000386412.1:p.Val141Met | |
| ENST00000258405.8:c.421G>A | ENSP00000258405.4:p.Val141Met | |
| ENST00000409304.5:c.421G>A | ENSP00000386412.1:p.Val141Met | |
| ENST00000409840.7:c.421G>A | ENSP00000386969.3:p.Val141Met | |
| ENST00000432738.5:c.421G>A | ENSP00000408452.1:p.Val141Met | |
| ENST00000447280.6:c.457G>A | ENSP00000415786.2:p.Val153Met | |
| NM_001136528.1:c.421G>A | NP_001130000.1:p.Val141Met | |
| NM_001136530.1:c.457G>A | NP_001130002.1:p.Val153Met | |
| NM_006216.3:c.421G>A | NP_006207.1:p.Val141Met | |
| NR_073116.1:n.1082G>A | ||
| XM_005246641.2:c.457G>A | XP_005246698.1:p.Val153Met | |
| XM_005246642.2:c.421G>A | XP_005246699.1:p.Val141Met | |
| XM_017004330.1:c.421G>A | XP_016859819.1:p.Val141Met | |
| XM_017004332.2:c.421G>A | XP_016859821.1:p.Val141Met | |
| NM_001136528.2:c.421G>A MANE Select | NP_001130000.1:p.Val141Met | |
| NM_006216.4:c.421G>A | NP_006207.1:p.Val141Met | |
| NR_073116.2:n.1082G>A |