Linked Data
ClinVar Variation Id:
191390
dbSNP Id:
rs776979647
ExAC:
7:91690608 T / C
gnomAD v2:
7-91690608-T-C
gnomAD v3:
7-92061294-T-C
gnomAD v4:
7-92061294-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92061294T>C , CM000669.2:g.92061294T>C | GRCh38 |
| NC_000007.13:g.91690608T>C , CM000669.1:g.91690608T>C | GRCh37 |
| NC_000007.12:g.91528544T>C | NCBI36 |
| NG_011623.1:g.125420T>C , LRG_331:g.125420T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.5636T>C MANE Select | ENSP00000348573.3:p.Met1879Thr | |
| ENST00000359028.7:c.5732T>C | ENSP00000351922.4:p.Met1911Thr | |
| ENST00000491695.2:c.281T>C | ENSP00000494626.2:p.Met94Thr | |
| ENST00000674381.2:c.*5365T>C | ENSP00000501536.2:n.*5365T>C | |
| ENST00000679448.1:c.5636T>C | ENSP00000505889.1:p.Met1879Thr | |
| ENST00000679457.1:c.5636T>C | ENSP00000505450.1:p.Met1879Thr | |
| ENST00000679474.1:n.5858T>C | ||
| ENST00000679521.1:c.5582T>C | ENSP00000505456.1:p.Met1861Thr | |
| ENST00000679554.1:c.*5421T>C | ENSP00000506415.1:n.*5421T>C | |
| ENST00000679722.1:n.5858T>C | ||
| ENST00000679821.1:c.5378T>C | ENSP00000506040.1:p.Met1793Thr | |
| ENST00000680047.1:n.5858T>C | ||
| ENST00000680072.1:c.5636T>C | ENSP00000506581.1:p.Met1879Thr | |
| ENST00000680074.1:n.5858T>C | ||
| ENST00000680181.1:c.5543T>C | ENSP00000505548.1:p.Met1848Thr | |
| ENST00000680513.1:c.5495T>C | ENSP00000505284.1:p.Met1832Thr | |
| ENST00000680534.1:c.5636T>C | ENSP00000506674.1:p.Met1879Thr | |
| ENST00000680766.1:c.5636T>C | ENSP00000505204.1:p.Met1879Thr | |
| ENST00000680952.1:c.5636T>C | ENSP00000506407.1:p.Met1879Thr | |
| ENST00000681412.1:c.5636T>C | ENSP00000506486.1:p.Met1879Thr | |
| ENST00000681722.1:c.5636T>C | ENSP00000506566.1:p.Met1879Thr | |
| ENST00000356239.7:c.5636T>C | ENSP00000348573.3:p.Met1879Thr | |
| ENST00000358100.6:c.5495T>C | ENSP00000350813.3:p.Met1832Thr | |
| ENST00000359028.6:c.5669T>C | ENSP00000351922.3:p.Met1890Thr | |
| ENST00000491695.1:n.824T>C | ||
| NM_005751.4:c.5636T>C , LRG_331t1:c.5636T>C | NP_005742.4:p.Met1879Thr | |
| NM_147185.2:c.5636T>C | NP_671714.1:p.Met1879Thr | |
| XM_006715827.1:c.5495T>C | XP_006715890.1:p.Met1832Thr | |
| XM_011515709.1:c.5768T>C | XP_011514011.1:p.Met1923Thr | |
| XM_011515710.1:c.5768T>C | XP_011514012.1:p.Met1923Thr | |
| XM_011515711.1:c.5732T>C | XP_011514013.1:p.Met1911Thr | |
| XM_011515712.1:c.5768T>C | XP_011514014.1:p.Met1923Thr | |
| XM_011515713.1:c.5714T>C | XP_011514015.1:p.Met1905Thr | |
| XM_011515714.1:c.5768T>C | XP_011514016.1:p.Met1923Thr | |
| XM_011515716.1:c.5672T>C | XP_011514018.1:p.Met1891Thr | |
| XM_011515717.1:c.5627T>C | XP_011514019.1:p.Met1876Thr | |
| XM_011515718.1:c.5672T>C | XP_011514020.1:p.Met1891Thr | |
| XM_011515719.1:c.5672T>C | XP_011514021.1:p.Met1891Thr | |
| XM_011515720.1:c.5531T>C | XP_011514022.1:p.Met1844Thr | |
| XM_011515721.1:c.281T>C | XP_011514023.1:p.Met94Thr | |
| XM_011515722.1:c.281T>C | XP_011514024.1:p.Met94Thr | |
| XM_017011642.2:c.5732T>C | XP_016867131.1:p.Met1911Thr | |
| XM_017011643.2:c.5732T>C | XP_016867132.1:p.Met1911Thr | |
| XM_017011644.2:c.5732T>C | XP_016867133.1:p.Met1911Thr | |
| XM_017011645.2:c.5678T>C | XP_016867134.1:p.Met1893Thr | |
| XM_017011646.2:c.5732T>C | XP_016867135.1:p.Met1911Thr | |
| XM_017011647.2:c.5639T>C | XP_016867136.1:p.Met1880Thr | |
| XM_017011648.2:c.5636T>C | XP_016867137.1:p.Met1879Thr | |
| XM_017011649.2:c.5732T>C | XP_016867138.1:p.Met1911Thr | |
| XM_017011650.2:c.5636T>C | XP_016867139.1:p.Met1879Thr | |
| XM_017011651.2:c.5591T>C | XP_016867140.1:p.Met1864Thr | |
| XM_017011652.2:c.5732T>C | XP_016867141.1:p.Met1911Thr | |
| XM_017011653.2:c.5543T>C | XP_016867142.1:p.Met1848Thr | |
| XM_017011654.2:c.5495T>C | XP_016867143.1:p.Met1832Thr | |
| XM_017011655.2:c.5360T>C | XP_016867144.1:p.Met1787Thr | |
| XM_017011656.2:c.5360T>C | XP_016867145.1:p.Met1787Thr | |
| XM_017011657.2:c.1397T>C | XP_016867146.1:p.Met466Thr | |
| XM_017011658.2:c.281T>C | XP_016867147.1:p.Met94Thr | |
| XM_017011659.2:c.281T>C | XP_016867148.1:p.Met94Thr | |
| XM_017011660.2:c.281T>C | XP_016867149.1:p.Met94Thr | |
| XM_024446631.1:c.5495T>C | XP_024302399.1:p.Met1832Thr | |
| NM_147185.3:c.5636T>C | NP_671714.1:p.Met1879Thr | |
| NM_001379277.1:c.281T>C | NP_001366206.1:p.Met94Thr | |
| NM_005751.5:c.5636T>C MANE Select | NP_005742.4:p.Met1879Thr |