Linked Data
ClinVar Variation Id:
498372
dbSNP Id:
rs149408006
ExAC:
2:71892333 A / T
gnomAD v2:
2-71892333-A-T
gnomAD v3:
2-71665203-A-T
gnomAD v4:
2-71665203-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71665203A>T , CM000664.2:g.71665203A>T | GRCh38 |
| NC_000002.11:g.71892333A>T , CM000664.1:g.71892333A>T | GRCh37 |
| NC_000002.10:g.71745841A>T | NCBI36 |
| NG_008694.1:g.216581A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2630A>T | ENSP00000513536.1:p.Gln877Leu | |
| ENST00000698058.1:c.1847A>T | ENSP00000513537.1:p.Gln616Leu | |
| ENST00000698059.1:c.1955A>T | ENSP00000513538.1:p.Gln652Leu | |
| ENST00000258104.8:c.5099A>T MANE Plus Clinical | ENSP00000258104.3:p.Gln1700Leu | |
| ENST00000410020.8:c.5216A>T MANE Select | ENSP00000386881.3:p.Gln1739Leu | |
| ENST00000258104.7:c.5099A>T | ENSP00000258104.3:p.Gln1700Leu | |
| ENST00000394120.6:c.5102A>T | ENSP00000377678.2:p.Gln1701Leu | |
| ENST00000409366.5:c.5165A>T | ENSP00000386512.1:p.Gln1722Leu | |
| ENST00000409582.7:c.5213A>T | ENSP00000386547.3:p.Gln1738Leu | |
| ENST00000409651.5:c.5195A>T | ENSP00000386683.1:p.Gln1732Leu | |
| ENST00000409744.5:c.5123A>T | ENSP00000386285.1:p.Gln1708Leu | |
| ENST00000409762.5:c.5150A>T | ENSP00000387137.1:p.Gln1717Leu | |
| ENST00000410020.7:c.5216A>T | ENSP00000386881.3:p.Gln1739Leu | |
| ENST00000410041.1:c.5153A>T | ENSP00000386617.1:p.Gln1718Leu | |
| ENST00000413539.6:c.5192A>T | ENSP00000407046.2:p.Gln1731Leu | |
| ENST00000429174.6:c.5162A>T | ENSP00000398305.2:p.Gln1721Leu | |
| ENST00000479049.6:n.1984A>T | ||
| NM_001130455.1:c.5102A>T | NP_001123927.1:p.Gln1701Leu | |
| NM_001130976.1:c.5057A>T | NP_001124448.1:p.Gln1686Leu | |
| NM_001130977.1:c.5120A>T | NP_001124449.1:p.Gln1707Leu | |
| NM_001130978.1:c.5162A>T | NP_001124450.1:p.Gln1721Leu | |
| NM_001130979.1:c.5192A>T | NP_001124451.1:p.Gln1731Leu | |
| NM_001130980.1:c.5150A>T | NP_001124452.1:p.Gln1717Leu | |
| NM_001130981.1:c.5213A>T | NP_001124453.1:p.Gln1738Leu | |
| NM_001130982.1:c.5195A>T | NP_001124454.1:p.Gln1732Leu | |
| NM_001130983.1:c.5165A>T | NP_001124455.1:p.Gln1722Leu | |
| NM_001130984.1:c.5123A>T | NP_001124456.1:p.Gln1708Leu | |
| NM_001130985.1:c.5153A>T | NP_001124457.1:p.Gln1718Leu | |
| NM_001130986.1:c.5060A>T | NP_001124458.1:p.Gln1687Leu | |
| NM_001130987.1:c.5216A>T | NP_001124459.1:p.Gln1739Leu | |
| NM_003494.3:c.5099A>T | NP_003485.1:p.Gln1700Leu | |
| XM_005264584.3:c.5258A>T | XP_005264641.1:p.Gln1753Leu | |
| XM_005264585.3:c.5255A>T | XP_005264642.1:p.Gln1752Leu | |
| XM_005264584.4:c.5258A>T | XP_005264641.1:p.Gln1753Leu | |
| XM_005264585.5:c.5255A>T | XP_005264642.1:p.Gln1752Leu | |
| XR_001738969.1:n.5614A>T | ||
| NM_001130987.2:c.5216A>T MANE Select | NP_001124459.1:p.Gln1739Leu | |
| NM_001130455.2:c.5102A>T | NP_001123927.1:p.Gln1701Leu | |
| NM_001130976.2:c.5057A>T | NP_001124448.1:p.Gln1686Leu | |
| NM_001130977.2:c.5120A>T | NP_001124449.1:p.Gln1707Leu | |
| NM_001130978.2:c.5162A>T | NP_001124450.1:p.Gln1721Leu | |
| NM_001130979.2:c.5192A>T | NP_001124451.1:p.Gln1731Leu | |
| NM_001130980.2:c.5150A>T | NP_001124452.1:p.Gln1717Leu | |
| NM_001130981.2:c.5213A>T | NP_001124453.1:p.Gln1738Leu | |
| NM_001130982.2:c.5195A>T | NP_001124454.1:p.Gln1732Leu | |
| NM_001130983.2:c.5165A>T | NP_001124455.1:p.Gln1722Leu | |
| NM_001130984.2:c.5123A>T | NP_001124456.1:p.Gln1708Leu | |
| NM_001130985.2:c.5153A>T | NP_001124457.1:p.Gln1718Leu | |
| NM_001130986.2:c.5060A>T | NP_001124458.1:p.Gln1687Leu | |
| NM_003494.4:c.5099A>T MANE Plus Clinical | NP_003485.1:p.Gln1700Leu |