Linked Data
dbSNP Id:
rs1950385210
gnomAD v4:
11-35260951-G-A
MyVariant Identifiers:
chr11:g.35282498G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260951G>A , CM000673.2:g.35260951G>A | GRCh38 |
| NC_000011.9:g.35282498G>A , CM000673.1:g.35282498G>A | GRCh37 |
| NC_000011.8:g.35239074G>A | NCBI36 |
| NG_008727.1:g.163608C>T | |
| NG_008727.2:g.163608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1668C>T MANE Select | ENSP00000278379.3:p.Ala556= | |
| ENST00000395750.6:c.1656C>T | ENSP00000379099.2:p.Ala552= | |
| ENST00000395753.6:c.1641C>T | ENSP00000379102.1:p.Ala547= | |
| ENST00000479543.2:n.1220C>T | ||
| ENST00000642171.1:c.*50C>T | ENSP00000495538.1:n.*50C>T | |
| ENST00000642448.1:n.1760C>T | ||
| ENST00000642769.1:c.934C>T | ||
| ENST00000643000.1:c.1641C>T | ENSP00000495164.1:p.Ala547= | |
| ENST00000643134.1:c.1655C>T | ENSP00000495188.1:p.Pro552Leu | |
| ENST00000643522.1:c.1434C>T | ENSP00000496375.1:p.Ala478= | |
| ENST00000644050.1:c.1641C>T | ENSP00000496123.1:p.Ala547= | |
| ENST00000644299.1:c.1641C>T | ENSP00000494669.1:p.Ala547= | |
| ENST00000644459.1:c.*160C>T | ENSP00000495861.1:n.*160C>T | |
| ENST00000644779.1:c.1779C>T | ENSP00000494258.1:p.Ala593= | |
| ENST00000644868.1:c.1730C>T | ENSP00000496760.1:n.1730C>T | |
| ENST00000645194.1:c.1641C>T | ENSP00000496093.1:p.Ala547= | |
| ENST00000645303.1:c.1683C>T | ENSP00000496667.1:p.Ala561= | |
| ENST00000645542.1:n.374C>T | ||
| ENST00000645634.1:c.1641C>T | ENSP00000493945.1:p.Ala547= | |
| ENST00000646080.1:c.1659C>T | ENSP00000494113.1:p.Ala553= | |
| ENST00000647076.1:c.409C>T | ||
| ENST00000647104.1:c.1641C>T | ENSP00000494025.1:p.Ala547= | |
| ENST00000278379.7:c.1668C>T | ENSP00000278379.3:p.Ala556= | |
| ENST00000395750.5:c.1641C>T | ENSP00000379099.1:p.Ala547= | |
| ENST00000395753.5:c.1641C>T | ENSP00000379102.1:p.Ala547= | |
| ENST00000464522.2:c.219+4576C>T | ENSP00000435406.1:n.219+4576C>T | |
| ENST00000479543.1:n.484C>T | ||
| NM_001195728.2:c.1641C>T | NP_001182657.1:p.Ala547= | |
| NM_001252652.1:c.1641C>T | NP_001239581.1:p.Ala547= | |
| NM_004171.3:c.1668C>T | NP_004162.2:p.Ala556= | |
| XM_005253067.1:c.1659C>T | XP_005253124.1:p.Ala553= | |
| XM_011520284.1:c.1716C>T | XP_011518586.1:p.Ala572= | |
| XM_011520285.1:c.1656C>T | XP_011518587.1:p.Ala552= | |
| XM_011520286.1:c.1581C>T | XP_011518588.1:p.Ala527= | |
| XM_011520287.1:c.1482C>T | XP_011518589.1:p.Ala494= | |
| XM_011520285.2:c.1656C>T | XP_011518587.1:p.Ala552= | |
| XM_017018136.1:c.1683C>T | XP_016873625.1:p.Ala561= | |
| XM_017018137.1:c.1641C>T | XP_016873626.1:p.Ala547= | |
| XM_017018138.1:c.1641C>T | XP_016873627.1:p.Ala547= | |
| XM_017018139.1:c.1434C>T | XP_016873628.1:p.Ala478= | |
| NM_004171.4:c.1668C>T MANE Select | NP_004162.2:p.Ala556= | |
| NM_001195728.3:c.1641C>T | NP_001182657.1:p.Ala547= | |
| NM_001252652.2:c.1641C>T | NP_001239581.1:p.Ala547= |