Linked Data
ClinVar Variation Id:
412352
dbSNP Id:
rs776848209
ExAC:
5:225645 A / G
gnomAD v2:
5-225645-A-G
gnomAD v3:
5-225530-A-G
gnomAD v4:
5-225530-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225530A>G , CM000667.2:g.225530A>G | GRCh38 |
| NC_000005.9:g.225645A>G , CM000667.1:g.225645A>G | GRCh37 |
| NC_000005.8:g.278645A>G | NCBI36 |
| NG_012339.1:g.12290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.424A>G MANE Select | ENSP00000264932.6:p.Met142Val | |
| ENST00000651543.1:c.424A>G | ENSP00000499215.1:p.Met142Val | |
| ENST00000264932.10:c.424A>G | ENSP00000264932.6:p.Met142Val | |
| ENST00000504309.5:c.424A>G | ENSP00000426514.1:p.Met142Val | |
| ENST00000504824.5:n.409A>G | ||
| ENST00000505555.5:n.464A>G | ||
| ENST00000509632.5:c.*252A>G | ENSP00000425077.1:n.*252A>G | |
| ENST00000510361.5:c.313-353A>G | ENSP00000427703.1:n.313-353A>G | |
| ENST00000617470.4:c.380+44A>G | ENSP00000484230.1:n.380+44A>G | |
| NM_001294332.1:c.313-353A>G | NP_001281261.1:n.313-353A>G | |
| NM_004168.3:c.424A>G | NP_004159.2:p.Met142Val | |
| XM_005248331.2:c.424A>G | XP_005248388.1:p.Met142Val | |
| XM_011514072.1:c.424A>G | XP_011512374.1:p.Met142Val | |
| XM_011514073.1:c.424A>G | XP_011512375.1:p.Met142Val | |
| XR_925638.1:n.557A>G | ||
| NM_001330758.1:c.424A>G | NP_001317687.1:p.Met142Val | |
| XM_011514072.2:c.424A>G | XP_011512374.1:p.Met142Val | |
| XM_011514073.2:c.424A>G | XP_011512375.1:p.Met142Val | |
| XM_017009685.2:c.424A>G | XP_016865174.1:p.Met142Val | |
| XM_024446143.1:c.313-353A>G | XP_024301911.1:n.313-353A>G | |
| XR_002956167.1:n.471A>G | ||
| NM_004168.4:c.424A>G MANE Select | NP_004159.2:p.Met142Val | |
| NM_001294332.2:c.313-353A>G | NP_001281261.1:n.313-353A>G | |
| NM_001330758.2:c.424A>G | NP_001317687.1:p.Met142Val |