Linked Data
dbSNP Id:
rs758981063
ExAC:
1:7812540 G / A
gnomAD v2:
1-7812540-G-A
gnomAD v4:
1-7752480-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7752480G>A , CM000663.2:g.7752480G>A | GRCh38 |
| NC_000001.10:g.7812540G>A , CM000663.1:g.7812540G>A | GRCh37 |
| NC_000001.9:g.7735127G>A | NCBI36 |
| NG_053148.1:g.972157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710284.1:c.1659G>A | ENSP00000518174.1:p.Lys553= | |
| ENST00000710285.1:c.1998G>A | ENSP00000518175.1:p.Lys666= | |
| ENST00000476864.2:c.4566G>A | ENSP00000452319.2:p.Lys1522= | |
| ENST00000495233.6:c.2227G>A | ||
| ENST00000700414.1:c.*4438G>A | ENSP00000514978.1:n.*4438G>A | |
| ENST00000700415.1:c.4497G>A | ENSP00000514979.1:p.Lys1499= | |
| ENST00000700417.1:c.4494G>A | ENSP00000514981.1:p.Lys1498= | |
| ENST00000700419.1:c.2751G>A | ENSP00000514983.1:p.Lys917= | |
| ENST00000700420.1:c.1956G>A | ENSP00000514994.1:p.Lys652= | |
| ENST00000700421.1:c.1977G>A | ENSP00000514995.1:p.Lys659= | |
| ENST00000700422.1:n.1079G>A | ||
| ENST00000700423.1:c.1659G>A | ENSP00000514996.1:p.Lys553= | |
| ENST00000700424.1:c.1659G>A | ENSP00000514997.1:p.Lys553= | |
| ENST00000700425.1:c.1617G>A | ENSP00000514998.1:p.Lys539= | |
| ENST00000700445.1:c.2251G>A | ||
| ENST00000700446.1:n.3301G>A | ||
| ENST00000700447.1:n.2585G>A | ||
| ENST00000700448.1:c.589G>A | ||
| ENST00000700449.1:c.109G>A | ||
| ENST00000303635.12:c.4905G>A MANE Select | ENSP00000306522.6:p.Lys1635= | |
| ENST00000303635.11:c.4905G>A | ENSP00000306522.6:p.Lys1635= | |
| ENST00000476864.1:c.597G>A | ENSP00000452319.1:p.Lys199= | |
| ENST00000490905.5:c.602G>A | ||
| ENST00000495233.5:c.1796G>A | ||
| NM_015215.3:c.4905G>A | NP_056030.1:p.Lys1635= | |
| XM_011541083.1:c.4926G>A | XP_011539385.1:p.Lys1642= | |
| XM_011541084.1:c.4926G>A | XP_011539386.1:p.Lys1642= | |
| XM_011541085.1:c.4914G>A | XP_011539387.1:p.Lys1638= | |
| XM_011541086.1:c.4905G>A | XP_011539388.1:p.Lys1635= | |
| XM_011541087.1:c.4854G>A | XP_011539389.1:p.Lys1618= | |
| XM_011541088.1:c.4836G>A | XP_011539390.1:p.Lys1612= | |
| XM_011541089.1:c.4587G>A | XP_011539391.1:p.Lys1529= | |
| XM_011541090.1:c.4587G>A | XP_011539392.1:p.Lys1529= | |
| NM_001349608.1:c.4815G>A | NP_001336537.1:p.Lys1605= | |
| NM_001349609.1:c.4587G>A | NP_001336538.1:p.Lys1529= | |
| NM_001349610.1:c.4581G>A | NP_001336539.1:p.Lys1527= | |
| NM_001349612.1:c.4497G>A | NP_001336541.1:p.Lys1499= | |
| NM_001349613.1:c.2034G>A | NP_001336542.1:p.Lys678= | |
| NM_001349614.1:c.1998G>A | NP_001336543.1:p.Lys666= | |
| NM_001349615.1:c.1998G>A | NP_001336544.1:p.Lys666= | |
| NM_001349616.1:c.1998G>A | NP_001336545.1:p.Lys666= | |
| NM_001349617.1:c.1977G>A | NP_001336546.1:p.Lys659= | |
| NM_001349618.1:c.1977G>A | NP_001336547.1:p.Lys659= | |
| NM_001349619.1:c.1659G>A | NP_001336548.1:p.Lys553= | |
| NM_001349620.1:c.1659G>A | NP_001336549.1:p.Lys553= | |
| NM_001349621.1:c.1659G>A | NP_001336550.1:p.Lys553= | |
| NM_001349622.1:c.1659G>A | NP_001336551.1:p.Lys553= | |
| NM_001349623.1:c.1638G>A | NP_001336552.1:p.Lys546= | |
| NM_001349624.2:c.1638G>A | NP_001336553.1:p.Lys546= | |
| NM_001349625.1:c.1638G>A | NP_001336554.1:p.Lys546= | |
| NM_001349626.1:c.1638G>A | NP_001336555.1:p.Lys546= | |
| XM_011541083.2:c.4926G>A | XP_011539385.1:p.Lys1642= | |
| XM_011541084.2:c.4926G>A | XP_011539386.1:p.Lys1642= | |
| XM_011541086.3:c.4905G>A | XP_011539388.1:p.Lys1635= | |
| XM_011541087.2:c.4854G>A | XP_011539389.1:p.Lys1618= | |
| XM_011541088.2:c.4836G>A | XP_011539390.1:p.Lys1612= | |
| XM_011541090.3:c.4587G>A | XP_011539392.1:p.Lys1529= | |
| XM_017000774.2:c.4926G>A | XP_016856263.1:p.Lys1642= | |
| XM_017000777.1:c.4566G>A | XP_016856266.1:p.Lys1522= | |
| XM_017000778.1:c.4566G>A | XP_016856267.1:p.Lys1522= | |
| XM_024454329.1:c.2187G>A | XP_024310097.1:p.Lys729= | |
| XM_024454330.1:c.2166G>A | XP_024310098.1:p.Lys722= | |
| XM_024454331.1:c.1998G>A | XP_024310099.1:p.Lys666= | |
| XM_024454332.1:c.1998G>A | XP_024310100.1:p.Lys666= | |
| XM_024454333.1:c.1998G>A | XP_024310101.1:p.Lys666= | |
| XM_024454334.1:c.1998G>A | XP_024310102.1:p.Lys666= | |
| XM_024454335.1:c.1998G>A | XP_024310103.1:p.Lys666= | |
| XM_024454338.1:c.1659G>A | XP_024310106.1:p.Lys553= | |
| NM_015215.4:c.4905G>A MANE Select | NP_056030.1:p.Lys1635= | |
| NM_001349608.2:c.4815G>A | NP_001336537.1:p.Lys1605= | |
| NM_001349609.2:c.4587G>A | NP_001336538.1:p.Lys1529= | |
| NM_001349610.2:c.4581G>A | NP_001336539.1:p.Lys1527= | |
| NM_001349612.2:c.4497G>A | NP_001336541.1:p.Lys1499= | |
| NM_001349615.2:c.1998G>A | NP_001336544.1:p.Lys666= | |
| NM_001349616.2:c.1998G>A | NP_001336545.1:p.Lys666= | |
| NM_001349618.2:c.1977G>A | NP_001336547.1:p.Lys659= | |
| NM_001349619.2:c.1659G>A | NP_001336548.1:p.Lys553= | |
| NM_001349622.2:c.1659G>A | NP_001336551.1:p.Lys553= | |
| NM_001349624.3:c.1638G>A | NP_001336553.1:p.Lys546= | |
| NM_001349626.2:c.1638G>A | NP_001336555.1:p.Lys546= | |
| NM_001349625.2:c.1638G>A | NP_001336554.1:p.Lys546= |