Linked Data
dbSNP Id:
rs1218813134
gnomAD v2:
15-77325217-C-A
gnomAD v3:
15-77032876-C-A
gnomAD v4:
15-77032876-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032876C>A , CM000677.2:g.77032876C>A | GRCh38 |
| NC_000015.9:g.77325217C>A , CM000677.1:g.77325217C>A | GRCh37 |
| NC_000015.8:g.75112272C>A | NCBI36 |
| NG_007526.1:g.42753C>A , LRG_172:g.42753C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.2019C>A | ||
| ENST00000697623.1:n.2272C>A | ||
| ENST00000558012.6:c.853C>A MANE Select | ENSP00000452746.1:p.Gln285Lys | |
| ENST00000379595.7:c.853C>A | ENSP00000368914.3:p.Gln285Lys | |
| ENST00000557995.1:n.517C>A | ||
| ENST00000558012.5:c.853C>A | ENSP00000452746.1:p.Gln285Lys | |
| ENST00000558870.1:c.78+482C>A | ||
| ENST00000559295.5:c.872+448C>A | ENSP00000452743.1:n.872+448C>A | |
| ENST00000559785.5:c.1082C>A | ENSP00000452986.1:p.Pro361Gln | |
| ENST00000560223.5:c.*955C>A | ENSP00000454118.1:n.*955C>A | |
| NM_003978.3:c.853C>A , LRG_172t1:c.853C>A | NP_003969.2:p.Gln285Lys | |
| XM_006720737.2:c.487C>A | XP_006720800.1:p.Gln163Lys | |
| XM_011522163.1:c.910C>A | XP_011520465.1:p.Gln304Lys | |
| XM_011522164.1:c.808C>A | XP_011520466.1:p.Gln270Lys | |
| XM_011522165.1:c.706C>A | XP_011520467.1:p.Gln236Lys | |
| XM_011522166.1:c.944C>A | XP_011520468.1:p.Pro315Gln | |
| XM_011522167.1:c.895+482C>A | XP_011520469.1:n.895+482C>A | |
| XM_011522168.1:c.910C>A | XP_011520470.1:p.Gln304Lys | |
| XM_011522169.1:c.798+1598C>A | XP_011520471.1:n.798+1598C>A | |
| XM_011522170.1:c.372-2632C>A | XP_011520472.1:n.372-2632C>A | |
| XM_011522171.1:c.312-2632C>A | XP_011520473.1:n.312-2632C>A | |
| XM_011522172.1:c.312-2632C>A | XP_011520474.1:n.312-2632C>A | |
| XM_011522173.1:c.312-2632C>A | XP_011520475.1:n.312-2632C>A | |
| XR_931936.1:n.1394C>A | ||
| XR_931937.1:n.1337C>A | ||
| XR_931938.1:n.1345+482C>A | ||
| XR_931939.1:n.1248+1598C>A | ||
| XR_931940.1:n.1070-2632C>A | ||
| NM_001321135.1:c.872+448C>A | NP_001308064.1:n.872+448C>A | |
| NM_001321136.1:c.826C>A | NP_001308065.1:p.Gln276Lys | |
| NM_001321137.1:c.1048C>A | NP_001308066.1:p.Gln350Lys | |
| NM_003978.4:c.853C>A | NP_003969.2:p.Gln285Lys | |
| NR_135552.1:n.1150+1598C>A | ||
| XM_006720737.3:c.487C>A | XP_006720800.1:p.Gln163Lys | |
| XM_011522163.2:c.910C>A | XP_011520465.1:p.Gln304Lys | |
| XM_011522165.2:c.706C>A | XP_011520467.1:p.Gln236Lys | |
| XM_011522166.2:c.944C>A | XP_011520468.1:p.Pro315Gln | |
| XM_011522167.2:c.895+482C>A | XP_011520469.1:n.895+482C>A | |
| XM_011522168.3:c.910C>A | XP_011520470.1:p.Gln304Lys | |
| XM_011522169.2:c.798+1598C>A | XP_011520471.1:n.798+1598C>A | |
| XR_931936.2:n.1392C>A | ||
| XR_931937.2:n.1335C>A | ||
| XR_931938.2:n.1343+482C>A | ||
| XR_931939.2:n.1246+1598C>A | ||
| NM_001321135.2:c.872+448C>A | NP_001308064.1:n.872+448C>A | |
| NM_001321136.2:c.826C>A | NP_001308065.1:p.Gln276Lys | |
| NM_003978.5:c.853C>A MANE Select | NP_003969.2:p.Gln285Lys | |
| NR_135552.2:n.1109+1598C>A |