Linked Data
ClinVar Variation Id:
73
ClinVar RCV Id:
RCV000000091
dbSNP Id:
rs121918063
gnomAD v3:
1-45013928-T-G
gnomAD v4:
1-45013928-T-G
PubMed:
PMID:9792863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45013928T>G , CM000663.2:g.45013928T>G | GRCh38 |
| NC_000001.10:g.45479600T>G , CM000663.1:g.45479600T>G | GRCh37 |
| NC_000001.9:g.45252187T>G | NCBI36 |
| NG_007122.2:g.6771T>G | |
| NG_033058.1:g.2428A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.494T>G MANE Select | ENSP00000246337.4:p.Met165Arg | |
| ENST00000434478.6:c.548T>G | ENSP00000404489.2:p.Met183Arg | |
| ENST00000491773.6:c.389T>G | ENSP00000498551.1:p.Met130Arg | |
| ENST00000636293.1:c.494T>G | ENSP00000490710.1:p.Met165Arg | |
| ENST00000636836.1:c.494T>G | ENSP00000490594.1:p.Met165Arg | |
| ENST00000651476.1:c.389T>G | ENSP00000498668.1:p.Met130Arg | |
| ENST00000652165.1:c.389T>G | ENSP00000498295.1:p.Met130Arg | |
| ENST00000652287.1:c.431T>G | ENSP00000498413.1:p.Met144Arg | |
| ENST00000652514.1:c.455T>G | ENSP00000498635.1:n.455T>G | |
| ENST00000246337.8:c.494T>G | ENSP00000246337.4:p.Met165Arg | |
| ENST00000428106.1:c.454+137T>G | ||
| ENST00000434478.5:c.431T>G | ENSP00000404489.1:p.Met144Arg | |
| ENST00000460334.5:n.521T>G | ||
| ENST00000460906.5:n.628T>G | ||
| ENST00000462688.5:n.621T>G | ||
| ENST00000469548.5:n.690T>G | ||
| ENST00000473012.1:n.541T>G | ||
| ENST00000478467.5:n.497T>G | ||
| ENST00000486699.5:n.614T>G | ||
| ENST00000490385.5:n.568T>G | ||
| ENST00000491300.5:n.613T>G | ||
| ENST00000491773.5:n.648T>G | ||
| ENST00000494399.5:n.634T>G | ||
| ENST00000496439.1:n.590T>G | ||
| NM_000374.4:c.494T>G | NP_000365.3:p.Met165Arg | |
| NR_036510.1:n.677T>G | ||
| XM_005271169.1:c.278T>G | XP_005271226.1:p.Met93Arg | |
| XM_005271170.1:c.278T>G | XP_005271227.1:p.Met93Arg | |
| XM_011542080.1:c.431T>G | XP_011540382.1:p.Met144Arg | |
| XM_011542081.1:c.326T>G | XP_011540383.1:p.Met109Arg | |
| NM_000374.5:c.494T>G MANE Select | NP_000365.3:p.Met165Arg | |
| NR_158184.1:n.575T>G | ||
| NR_158185.1:n.525T>G | ||
| NR_036510.2:n.556T>G |