Linked Data
ClinVar Variation Id:
215513
ClinVar RCV Id:
RCV000196841
RCV000248585
RCV000328206
RCV001001900
RCV001699002
RCV001727631
RCV003937748
dbSNP Id:
rs139770404
ExAC:
7:91695779 C / T
gnomAD v2:
7-91695779-C-T
gnomAD v3:
7-92066465-C-T
gnomAD v4:
7-92066465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92066465C>T , CM000669.2:g.92066465C>T | GRCh38 |
| NC_000007.13:g.91695779C>T , CM000669.1:g.91695779C>T | GRCh37 |
| NC_000007.12:g.91533715C>T | NCBI36 |
| NG_011623.1:g.130591C>T , LRG_331:g.130591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6249C>T MANE Select | ENSP00000348573.3:p.Phe2083= | |
| ENST00000359028.7:c.6345C>T | ENSP00000351922.4:p.Phe2115= | |
| ENST00000491695.2:c.894C>T | ENSP00000494626.2:p.Phe298= | |
| ENST00000674381.2:c.*5978C>T | ENSP00000501536.2:n.*5978C>T | |
| ENST00000679448.1:c.6249C>T | ENSP00000505889.1:p.Phe2083= | |
| ENST00000679457.1:c.6249C>T | ENSP00000505450.1:p.Phe2083= | |
| ENST00000679474.1:n.6471C>T | ||
| ENST00000679521.1:c.6195C>T | ENSP00000505456.1:p.Phe2065= | |
| ENST00000679554.1:c.*6034C>T | ENSP00000506415.1:n.*6034C>T | |
| ENST00000679722.1:n.6471C>T | ||
| ENST00000679821.1:c.5991C>T | ENSP00000506040.1:p.Phe1997= | |
| ENST00000680047.1:n.6471C>T | ||
| ENST00000680072.1:c.6249C>T | ENSP00000506581.1:p.Phe2083= | |
| ENST00000680074.1:n.9215C>T | ||
| ENST00000680181.1:c.6156C>T | ENSP00000505548.1:p.Phe2052= | |
| ENST00000680513.1:c.6108C>T | ENSP00000505284.1:p.Phe2036= | |
| ENST00000680534.1:c.6288C>T | ENSP00000506674.1:p.Phe2096= | |
| ENST00000680766.1:c.6249C>T | ENSP00000505204.1:p.Phe2083= | |
| ENST00000680952.1:c.6249C>T | ENSP00000506407.1:p.Phe2083= | |
| ENST00000681412.1:c.6249C>T | ENSP00000506486.1:p.Phe2083= | |
| ENST00000681722.1:c.6249C>T | ENSP00000506566.1:p.Phe2083= | |
| ENST00000356239.7:c.6249C>T | ENSP00000348573.3:p.Phe2083= | |
| ENST00000358100.6:c.6108C>T | ENSP00000350813.3:p.Phe2036= | |
| ENST00000359028.6:c.6282C>T | ENSP00000351922.3:p.Phe2094= | |
| NM_005751.4:c.6249C>T , LRG_331t1:c.6249C>T | NP_005742.4:p.Phe2083= | |
| NM_147185.2:c.6249C>T | NP_671714.1:p.Phe2083= | |
| XM_006715827.1:c.6108C>T | XP_006715890.1:p.Phe2036= | |
| XM_011515709.1:c.6420C>T | XP_011514011.1:p.Phe2140= | |
| XM_011515710.1:c.6420C>T | XP_011514012.1:p.Phe2140= | |
| XM_011515711.1:c.6384C>T | XP_011514013.1:p.Phe2128= | |
| XM_011515712.1:c.6381C>T | XP_011514014.1:p.Phe2127= | |
| XM_011515713.1:c.6366C>T | XP_011514015.1:p.Phe2122= | |
| XM_011515714.1:c.6381C>T | XP_011514016.1:p.Phe2127= | |
| XM_011515716.1:c.6324C>T | XP_011514018.1:p.Phe2108= | |
| XM_011515717.1:c.6279C>T | XP_011514019.1:p.Phe2093= | |
| XM_011515718.1:c.6285C>T | XP_011514020.1:p.Phe2095= | |
| XM_011515719.1:c.6285C>T | XP_011514021.1:p.Phe2095= | |
| XM_011515720.1:c.6144C>T | XP_011514022.1:p.Phe2048= | |
| XM_011515721.1:c.933C>T | XP_011514023.1:p.Phe311= | |
| XM_011515722.1:c.894C>T | XP_011514024.1:p.Phe298= | |
| XM_017011642.2:c.6384C>T | XP_016867131.1:p.Phe2128= | |
| XM_017011643.2:c.6345C>T | XP_016867132.1:p.Phe2115= | |
| XM_017011644.2:c.6384C>T | XP_016867133.1:p.Phe2128= | |
| XM_017011645.2:c.6330C>T | XP_016867134.1:p.Phe2110= | |
| XM_017011646.2:c.6345C>T | XP_016867135.1:p.Phe2115= | |
| XM_017011647.2:c.6291C>T | XP_016867136.1:p.Phe2097= | |
| XM_017011648.2:c.6288C>T | XP_016867137.1:p.Phe2096= | |
| XM_017011649.2:c.6345C>T | XP_016867138.1:p.Phe2115= | |
| XM_017011650.2:c.6249C>T | XP_016867139.1:p.Phe2083= | |
| XM_017011651.2:c.6243C>T | XP_016867140.1:p.Phe2081= | |
| XM_017011652.2:c.6384C>T | XP_016867141.1:p.Phe2128= | |
| XM_017011653.2:c.6156C>T | XP_016867142.1:p.Phe2052= | |
| XM_017011654.2:c.6108C>T | XP_016867143.1:p.Phe2036= | |
| XM_017011655.2:c.6012C>T | XP_016867144.1:p.Phe2004= | |
| XM_017011656.2:c.6012C>T | XP_016867145.1:p.Phe2004= | |
| XM_017011657.2:c.2049C>T | XP_016867146.1:p.Phe683= | |
| XM_017011658.2:c.933C>T | XP_016867147.1:p.Phe311= | |
| XM_017011659.2:c.894C>T | XP_016867148.1:p.Phe298= | |
| XM_017011660.2:c.894C>T | XP_016867149.1:p.Phe298= | |
| XM_024446631.1:c.6147C>T | XP_024302399.1:p.Phe2049= | |
| NM_147185.3:c.6249C>T | NP_671714.1:p.Phe2083= | |
| NM_001379277.1:c.894C>T | NP_001366206.1:p.Phe298= | |
| NM_005751.5:c.6249C>T MANE Select | NP_005742.4:p.Phe2083= |