Linked Data
dbSNP Id:
rs1346737326
gnomAD v2:
2-157185960-G-T
gnomAD v3:
2-156329448-G-T
gnomAD v4:
2-156329448-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329448G>T , CM000664.2:g.156329448G>T | GRCh38 |
| NC_000002.11:g.157185960G>T , CM000664.1:g.157185960G>T | GRCh37 |
| NC_000002.10:g.156894206G>T | NCBI36 |
| NG_011821.1:g.8328C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700228.1:c.610C>A | ENSP00000514865.1:p.Gln204Lys | |
| ENST00000700230.1:c.172C>A | ENSP00000514867.1:p.Gln58Lys | |
| ENST00000700231.1:c.739C>A | ENSP00000514868.1:p.Gln247Lys | |
| ENST00000339562.9:c.739C>A MANE Select | ENSP00000344479.4:p.Gln247Lys | |
| ENST00000675870.1:c.550C>A | ENSP00000502739.1:p.Gln184Lys | |
| ENST00000339562.8:c.739C>A | ENSP00000344479.4:p.Gln247Lys | |
| ENST00000406048.2:c.208+466C>A | ||
| ENST00000409108.6:c.739C>A | ENSP00000386993.2:p.Gln247Lys | |
| ENST00000409572.5:c.739C>A | ENSP00000386747.1:p.Gln247Lys | |
| ENST00000417764.5:c.550C>A | ENSP00000415632.1:p.Gln184Lys | |
| ENST00000417972.5:c.550C>A | ENSP00000394671.1:p.Gln184Lys | |
| ENST00000424077.1:c.739C>A | ENSP00000406808.1:p.Gln247Lys | |
| ENST00000426264.5:c.550C>A | ENSP00000389986.1:p.Gln184Lys | |
| ENST00000429376.5:c.550C>A | ENSP00000410952.1:p.Gln184Lys | |
| NM_006186.3:c.739C>A | NP_006177.1:p.Gln247Lys | |
| XM_005246621.2:c.772C>A | XP_005246678.1:p.Gln258Lys | |
| XM_005246622.2:c.550C>A | XP_005246679.1:p.Gln184Lys | |
| XM_005246623.1:c.550C>A | XP_005246680.1:p.Gln184Lys | |
| XM_006712553.2:c.772C>A | XP_006712616.1:p.Gln258Lys | |
| XM_011511246.1:c.772C>A | XP_011509548.1:p.Gln258Lys | |
| XR_427087.2:n.2945C>A | ||
| NM_173173.2:c.550C>A | NP_775265.1:p.Gln184Lys | |
| XM_005246621.4:c.772C>A | XP_005246678.1:p.Gln258Lys | |
| XM_006712553.4:c.772C>A | XP_006712616.1:p.Gln258Lys | |
| XM_011511246.2:c.772C>A | XP_011509548.1:p.Gln258Lys | |
| XM_017004219.2:c.739C>A | XP_016859708.1:p.Gln247Lys | |
| XM_017004220.2:c.739C>A | XP_016859709.1:p.Gln247Lys | |
| XR_001738751.2:n.1107C>A | ||
| XR_001738752.2:n.929C>A | ||
| XR_427087.4:n.986C>A | ||
| NM_006186.4:c.739C>A MANE Select | NP_006177.1:p.Gln247Lys | |
| NM_173173.3:c.550C>A | NP_775265.1:p.Gln184Lys |