Linked Data
ClinVar Variation Id:
205142
dbSNP Id:
rs778982551
ExAC:
13:77566339 G / C
gnomAD v2:
13-77566339-G-C
gnomAD v3:
13-76992204-G-C
gnomAD v4:
13-76992204-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992204G>C , CM000675.2:g.76992204G>C | GRCh38 |
| NC_000013.10:g.77566339G>C , CM000675.1:g.77566339G>C | GRCh37 |
| NC_000013.9:g.76464340G>C | NCBI36 |
| NG_009064.1:g.5281G>C , LRG_692:g.5281G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.106G>C MANE Select | ENSP00000366673.5:p.Ala36Pro | |
| ENST00000485938.4:c.106G>C | ENSP00000482959.3:p.Ala36Pro | |
| ENST00000616833.6:c.106G>C | ENSP00000479547.3:p.Ala36Pro | |
| ENST00000635905.1:n.107G>C | ||
| ENST00000635915.1:c.45G>C | ||
| ENST00000635989.1:n.116G>C | ||
| ENST00000636183.2:c.106G>C | ENSP00000490181.2:p.Ala36Pro | |
| ENST00000636525.2:c.106G>C | ENSP00000490078.2:p.Ala36Pro | |
| ENST00000636767.2:c.106G>C | ENSP00000489855.2:p.Ala36Pro | |
| ENST00000636780.2:c.106G>C | ENSP00000489809.2:p.Ala36Pro | |
| ENST00000637397.2:c.106G>C | ENSP00000490422.2:p.Ala36Pro | |
| ENST00000637537.2:c.106G>C | ENSP00000489711.2:p.Ala36Pro | |
| ENST00000638147.2:c.106G>C | ENSP00000490953.2:p.Ala36Pro | |
| ENST00000377453.7:c.253G>C | ENSP00000366673.3:p.Ala85Pro | |
| ENST00000485938.2:c.89G>C | ||
| ENST00000616833.4:c.106G>C | ENSP00000479547.1:p.Ala36Pro | |
| NM_006493.2:c.253G>C , LRG_692t1:c.253G>C | NP_006484.1:p.Ala85Pro | |
| XM_011534917.1:c.253G>C | XP_011533219.1:p.Ala85Pro | |
| NM_001366624.1:c.106G>C | NP_001353553.1:p.Ala36Pro | |
| NM_006493.3:c.106G>C | NP_006484.2:p.Ala36Pro | |
| NM_001366624.2:c.106G>C | NP_001353553.1:p.Ala36Pro | |
| NM_006493.4:c.106G>C MANE Select | NP_006484.2:p.Ala36Pro |