Linked Data
dbSNP Id:
rs3219012
ExAC:
3:9798270 C / T
gnomAD v2:
3-9798270-C-T
gnomAD v3:
3-9756586-C-T
gnomAD v4:
3-9756586-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9756586C>T , CM000665.2:g.9756586C>T | GRCh38 |
| NC_000003.11:g.9798270C>T , CM000665.1:g.9798270C>T | GRCh37 |
| NC_000003.10:g.9773270C>T | NCBI36 |
| NG_012106.1:g.11643C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302036.12:c.863C>T | ENSP00000306561.7:p.Ala288Val | |
| ENST00000352937.6:c.747+1701C>T | ENSP00000344899.6:n.747+1701C>T | |
| ENST00000707074.1:c.748-181C>T | ENSP00000516725.1:n.748-181C>T | |
| ENST00000344629.12:c.863C>T MANE Select | ENSP00000342851.7:p.Ala288Val | |
| ENST00000302003.11:c.863C>T | ENSP00000305584.7:p.Ala288Val | |
| ENST00000302008.12:c.863C>T | ENSP00000305527.8:p.Ala288Val | |
| ENST00000302036.11:c.863C>T | ENSP00000306561.7:p.Ala288Val | |
| ENST00000339511.9:c.863C>T | ENSP00000345520.5:p.Ala288Val | |
| ENST00000344629.11:c.863C>T | ENSP00000342851.7:p.Ala288Val | |
| ENST00000349503.9:c.747+1701C>T | ENSP00000303132.6:n.747+1701C>T | |
| ENST00000352937.5:c.463+1701C>T | ||
| ENST00000383825.2:n.48-181C>T | ||
| ENST00000383826.9:c.565+4637C>T | ENSP00000373337.5:n.565+4637C>T | |
| ENST00000416333.1:c.163C>T | ||
| ENST00000425665.1:c.*94C>T | ENSP00000396034.1:n.*94C>T | |
| ENST00000426518.5:c.294+4637C>T | ||
| ENST00000429146.5:c.613C>T | ||
| ENST00000441094.5:c.556C>T | ||
| ENST00000449570.6:c.863C>T | ENSP00000403598.2:p.Ala288Val | |
| NM_002542.5:c.863C>T | NP_002533.1:p.Ala288Val | |
| NM_016819.3:c.863C>T | NP_058212.1:p.Ala288Val | |
| NM_016820.3:c.863C>T | NP_058213.1:p.Ala288Val | |
| NM_016821.2:c.863C>T | NP_058214.1:p.Ala288Val | |
| NM_016826.2:c.747+1701C>T | NP_058434.1:n.747+1701C>T | |
| NM_016827.2:c.565+4637C>T | NP_058436.1:n.565+4637C>T | |
| NM_016828.2:c.863C>T | NP_058437.1:p.Ala288Val | |
| NM_016829.2:c.863C>T | NP_058438.1:p.Ala288Val | |
| XM_011533760.1:c.863C>T | XP_011532062.1:p.Ala288Val | |
| NM_001354648.1:c.566-181C>T | NP_001341577.1:n.566-181C>T | |
| NM_001354649.1:c.566-181C>T | NP_001341578.1:n.566-181C>T | |
| NM_001354650.1:c.748-181C>T | NP_001341579.1:n.748-181C>T | |
| NM_001354651.1:c.863C>T | NP_001341580.1:p.Ala288Val | |
| NM_001354652.1:c.748-181C>T | NP_001341581.1:n.748-181C>T | |
| NR_148930.1:n.958C>T | ||
| NR_148931.1:n.596C>T | ||
| NR_148932.1:n.1024C>T | ||
| XM_011533760.2:c.863C>T | XP_011532062.1:p.Ala288Val | |
| XM_017006493.2:c.748-181C>T | XP_016861982.1:n.748-181C>T | |
| XM_017006494.2:c.748-181C>T | XP_016861983.1:n.748-181C>T | |
| XM_017006495.2:c.748-181C>T | XP_016861984.1:n.748-181C>T | |
| XM_017006496.2:c.863C>T | XP_016861985.1:p.Ala288Val | |
| XM_017006497.2:c.748-181C>T | XP_016861986.1:n.748-181C>T | |
| XM_017006499.2:c.748-181C>T | XP_016861988.1:n.748-181C>T | |
| XR_001740156.2:n.1167C>T | ||
| NM_001354648.2:c.566-181C>T | NP_001341577.1:n.566-181C>T | |
| NM_001354649.2:c.566-181C>T | NP_001341578.1:n.566-181C>T | |
| NM_001354650.2:c.748-181C>T | NP_001341579.1:n.748-181C>T | |
| NM_001354651.2:c.863C>T | NP_001341580.1:p.Ala288Val | |
| NM_001354652.2:c.748-181C>T | NP_001341581.1:n.748-181C>T | |
| NM_002542.6:c.863C>T MANE Select | NP_002533.1:p.Ala288Val | |
| NM_016819.4:c.863C>T | NP_058212.1:p.Ala288Val | |
| NM_016820.4:c.863C>T | NP_058213.1:p.Ala288Val | |
| NM_016821.3:c.863C>T | NP_058214.1:p.Ala288Val | |
| NM_016826.3:c.747+1701C>T | NP_058434.1:n.747+1701C>T | |
| NM_016827.3:c.565+4637C>T | NP_058436.1:n.565+4637C>T | |
| NM_016828.3:c.863C>T | NP_058437.1:p.Ala288Val | |
| NM_016829.3:c.863C>T | NP_058438.1:p.Ala288Val | |
| NR_148930.2:n.950C>T | ||
| NR_148931.2:n.588C>T | ||
| NR_148932.2:n.1016C>T |