ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000478654
0.744
ENST00000320356 (MANE Select)
0.744
ENST00000460911
0.744
ENST00000350995
0.744
ENST00000541220
0.744
ENST00000476773
0.744
ENST00000483967
0.744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807669C>T , CM000669.2:g.148807669C>T | GRCh38 |
| NC_000007.13:g.148504761C>T , CM000669.1:g.148504761C>T | GRCh37 |
| NC_000007.12:g.148135694C>T | NCBI36 |
| NG_032043.1:g.81681G>A , LRG_531:g.81681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4133G>A | ||
| ENST00000682317.1:c.*1295G>A | ENSP00000508286.1:n.*1295G>A | |
| ENST00000683292.1:c.*1129G>A | ENSP00000507503.1:n.*1129G>A | |
| ENST00000683293.1:n.3952G>A | ||
| ENST00000683744.1:c.*1295G>A | ENSP00000506949.1:n.*1295G>A | |
| ENST00000684300.1:c.*1295G>A | ENSP00000508407.1:n.*1295G>A | |
| ENST00000684400.1:n.4220G>A | ||
| ENST00000684436.1:n.2549G>A | ||
| ENST00000684510.1:n.2611G>A | ||
| ENST00000320356.7:c.2233G>A MANE Select | ENSP00000320147.2:p.Glu745Lys | |
| ENST00000320356.6:c.2233G>A | ENSP00000320147.2:p.Glu745Lys | |
| ENST00000350995.6:c.2101G>A | ENSP00000223193.2:p.Glu701Lys | |
| ENST00000460911.5:c.2218G>A | ENSP00000419711.1:p.Glu740Lys | |
| ENST00000476773.5:c.2065G>A | ENSP00000419050.1:p.Glu689Lys | |
| ENST00000478654.5:c.2065G>A | ENSP00000417062.1:p.Glu689Lys | |
| ENST00000483967.5:c.2191G>A | ENSP00000419856.1:p.Glu731Lys | |
| ENST00000492143.5:c.*2223G>A | ENSP00000417377.1:n.*2223G>A | |
| NM_001203247.1:c.2218G>A | NP_001190176.1:p.Glu740Lys | |
| NM_001203248.1:c.2191G>A | NP_001190177.1:p.Glu731Lys | |
| NM_001203249.1:c.2065G>A | NP_001190178.1:p.Glu689Lys | |
| NM_004456.4:c.2233G>A , LRG_531t1:c.2233G>A | NP_004447.2:p.Glu745Lys | |
| NM_152998.2:c.2101G>A | NP_694543.1:p.Glu701Lys | |
| XM_005249962.3:c.2242G>A | XP_005250019.1:p.Glu748Lys | |
| XM_005249963.3:c.2215G>A | XP_005250020.1:p.Glu739Lys | |
| XM_005249964.3:c.2089G>A | XP_005250021.1:p.Glu697Lys | |
| XM_011515883.1:c.2257G>A | XP_011514185.1:p.Glu753Lys | |
| XM_011515884.1:c.2233G>A | XP_011514186.1:p.Glu745Lys | |
| XM_011515885.1:c.2230G>A | XP_011514187.1:p.Glu744Lys | |
| XM_011515886.1:c.2209G>A | XP_011514188.1:p.Glu737Lys | |
| XM_011515887.1:c.2206G>A | XP_011514189.1:p.Glu736Lys | |
| XM_011515888.1:c.2206G>A | XP_011514190.1:p.Glu736Lys | |
| XM_011515889.1:c.2167G>A | XP_011514191.1:p.Glu723Lys | |
| XM_011515890.1:c.2140G>A | XP_011514192.1:p.Glu714Lys | |
| XM_011515891.1:c.2134G>A | XP_011514193.1:p.Glu712Lys | |
| XM_011515892.1:c.2131G>A | XP_011514194.1:p.Glu711Lys | |
| XM_011515893.1:c.2125G>A | XP_011514195.1:p.Glu709Lys | |
| XM_011515894.1:c.2116G>A | XP_011514196.1:p.Glu706Lys | |
| XM_011515895.1:c.2113G>A | XP_011514197.1:p.Glu705Lys | |
| XM_011515896.1:c.1999G>A | XP_011514198.1:p.Glu667Lys | |
| XM_011515897.1:c.1906G>A | XP_011514199.1:p.Glu636Lys | |
| XM_011515898.1:c.1906G>A | XP_011514200.1:p.Glu636Lys | |
| XR_928101.1:n.515+2584C>T | ||
| XR_928102.1:n.722+2584C>T | ||
| XM_005249962.4:c.2242G>A | XP_005250019.1:p.Glu748Lys | |
| XM_005249963.4:c.2215G>A | XP_005250020.1:p.Glu739Lys | |
| XM_005249964.4:c.2089G>A | XP_005250021.1:p.Glu697Lys | |
| XM_011515883.2:c.2257G>A | XP_011514185.1:p.Glu753Lys | |
| XM_011515884.2:c.2233G>A | XP_011514186.1:p.Glu745Lys | |
| XM_011515885.2:c.2230G>A | XP_011514187.1:p.Glu744Lys | |
| XM_011515886.2:c.2209G>A | XP_011514188.1:p.Glu737Lys | |
| XM_011515887.3:c.2206G>A | XP_011514189.1:p.Glu736Lys | |
| XM_011515888.2:c.2206G>A | XP_011514190.1:p.Glu736Lys | |
| XM_011515889.2:c.2167G>A | XP_011514191.1:p.Glu723Lys | |
| XM_011515890.2:c.2140G>A | XP_011514192.1:p.Glu714Lys | |
| XM_011515891.3:c.2134G>A | XP_011514193.1:p.Glu712Lys | |
| XM_011515892.2:c.2131G>A | XP_011514194.1:p.Glu711Lys | |
| XM_011515893.2:c.2125G>A | XP_011514195.1:p.Glu709Lys | |
| XM_011515894.2:c.2116G>A | XP_011514196.1:p.Glu706Lys | |
| XM_011515895.2:c.2113G>A | XP_011514197.1:p.Glu705Lys | |
| XM_011515896.2:c.1999G>A | XP_011514198.1:p.Glu667Lys | |
| XM_011515897.2:c.1906G>A | XP_011514199.1:p.Glu636Lys | |
| XM_011515898.2:c.1906G>A | XP_011514200.1:p.Glu636Lys | |
| XM_017011817.2:c.2257G>A | XP_016867306.1:p.Glu753Lys | |
| XM_017011818.1:c.2194G>A | XP_016867307.1:p.Glu732Lys | |
| XM_017011819.1:c.2116G>A | XP_016867308.1:p.Glu706Lys | |
| XM_017011820.2:c.2089G>A | XP_016867309.1:p.Glu697Lys | |
| XM_017011821.1:c.1891G>A | XP_016867310.1:p.Glu631Lys | |
| XM_024446680.1:c.2119G>A | XP_024302448.1:p.Glu707Lys | |
| XR_001744581.1:n.4607G>A | ||
| XR_002956413.1:n.5263G>A | ||
| XR_002956414.1:n.5723G>A | ||
| NM_001203247.2:c.2218G>A | NP_001190176.1:p.Glu740Lys | |
| NM_001203248.2:c.2191G>A | NP_001190177.1:p.Glu731Lys | |
| NM_001203249.2:c.2065G>A | NP_001190178.1:p.Glu689Lys | |
| NM_004456.5:c.2233G>A MANE Select | NP_004447.2:p.Glu745Lys | |
| NM_152998.3:c.2101G>A | NP_694543.1:p.Glu701Lys |