Linked Data
dbSNP Id:
rs142714916
ExAC:
11:78189686 G / A
gnomAD v2:
11-78189686-G-A
gnomAD v3:
11-78478640-G-A
gnomAD v4:
11-78478640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78478640G>A , CM000673.2:g.78478640G>A | GRCh38 |
| NC_000011.9:g.78189686G>A , CM000673.1:g.78189686G>A | GRCh37 |
| NC_000011.8:g.77867334G>A | NCBI36 |
| NG_042046.1:g.101225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525345.6:n.356C>T | ||
| ENST00000529771.2:c.185C>T | ENSP00000435298.2:p.Ser62Leu | |
| ENST00000695114.1:n.3527C>T | ||
| ENST00000695115.1:c.185C>T | ENSP00000511705.1:p.Ser62Leu | |
| ENST00000695116.1:c.142-9327C>T | ENSP00000511706.1:n.142-9327C>T | |
| ENST00000695341.1:c.*536C>T | ENSP00000511816.1:n.*536C>T | |
| ENST00000695342.1:c.185C>T | ENSP00000511817.1:p.Ser62Leu | |
| ENST00000695343.1:c.185C>T | ENSP00000511818.1:p.Ser62Leu | |
| ENST00000695344.1:c.785C>T | ENSP00000511819.1:p.Ser262Leu | |
| ENST00000695345.1:c.185C>T | ENSP00000511820.1:p.Ser62Leu | |
| ENST00000695346.1:c.*283C>T | ENSP00000511821.1:n.*283C>T | |
| ENST00000695347.1:c.*338C>T | ENSP00000511822.1:n.*338C>T | |
| ENST00000695348.1:c.185C>T | ENSP00000511823.1:p.Ser62Leu | |
| ENST00000695349.1:c.866C>T | ENSP00000511824.1:p.Ser289Leu | |
| ENST00000695350.1:c.*37C>T | ENSP00000511825.1:n.*37C>T | |
| ENST00000695351.1:c.823-12627C>T | ENSP00000511826.1:n.823-12627C>T | |
| ENST00000695352.1:c.14C>T | ENSP00000511827.1:p.Ser5Leu | |
| ENST00000695353.1:c.-105-12627C>T | ENSP00000511828.1:n.-105-12627C>T | |
| ENST00000695354.1:c.866C>T | ENSP00000511829.1:p.Ser289Leu | |
| ENST00000695355.1:c.866C>T | ENSP00000511830.1:p.Ser289Leu | |
| ENST00000695356.1:c.*847C>T | ENSP00000511831.1:n.*847C>T | |
| ENST00000695357.1:c.866C>T | ENSP00000511832.1:p.Ser289Leu | |
| ENST00000695358.1:c.866C>T | ENSP00000511833.1:p.Ser289Leu | |
| ENST00000695359.1:c.*523C>T | ENSP00000511834.1:n.*523C>T | |
| ENST00000695360.1:c.866C>T | ENSP00000511835.1:p.Ser289Leu | |
| ENST00000695361.1:c.*89-9327C>T | ENSP00000511836.1:n.*89-9327C>T | |
| ENST00000695362.1:c.*186C>T | ENSP00000511837.1:n.*186C>T | |
| ENST00000695364.1:n.1204C>T | ||
| ENST00000695365.1:n.1156C>T | ||
| ENST00000695366.1:c.866C>T | ENSP00000511838.1:p.Ser289Leu | |
| ENST00000281038.10:c.866C>T MANE Select | ENSP00000281038.5:p.Ser289Leu | |
| ENST00000281038.9:c.866C>T | ENSP00000281038.5:p.Ser289Leu | |
| ENST00000525345.5:c.356C>T | ||
| ENST00000528850.5:c.185C>T | ENSP00000432635.1:p.Ser62Leu | |
| ENST00000529880.1:c.595-12627C>T | ENSP00000432240.1:n.595-12627C>T | |
| NM_001243251.1:c.185C>T | NP_001230180.1:p.Ser62Leu | |
| NM_024678.5:c.866C>T | NP_078954.4:p.Ser289Leu | |
| XM_011545253.1:c.866C>T | XP_011543555.1:p.Ser289Leu | |
| XR_950050.1:n.1235C>T | ||
| XR_950051.1:n.1235C>T | ||
| XR_950344.1:n.199+3763G>A | ||
| XR_950345.1:n.151+5344G>A | ||
| XM_011545253.2:c.866C>T | XP_011543555.1:p.Ser289Leu | |
| XM_017018302.2:c.866C>T | XP_016873791.1:p.Ser289Leu | |
| XM_017018303.1:c.185C>T | XP_016873792.1:p.Ser62Leu | |
| XM_017018304.2:c.185C>T | XP_016873793.1:p.Ser62Leu | |
| XR_001747963.2:n.1220C>T | ||
| XR_001747964.2:n.1220C>T | ||
| XR_001747965.2:n.1220C>T | ||
| XR_001747966.2:n.1220C>T | ||
| XR_001748314.1:n.3035+3763G>A | ||
| NM_024678.6:c.866C>T MANE Select | NP_078954.4:p.Ser289Leu | |
| NM_001243251.2:c.185C>T | NP_001230180.1:p.Ser62Leu |