Linked Data
ClinVar Variation Id:
130383
dbSNP Id:
rs773115
ExAC:
12:56398454 G / C
gnomAD v2:
12-56398454-G-C
gnomAD v3:
12-56004670-G-C
gnomAD v4:
12-56004670-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56004670G>C , CM000674.2:g.56004670G>C | GRCh38 |
| NC_000012.11:g.56398454G>C , CM000674.1:g.56398454G>C | GRCh37 |
| NC_000012.10:g.54684721G>C | NCBI36 |
| NG_008136.1:g.12412G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.1281G>C MANE Select | ENSP00000266971.3:p.Ser427= | |
| ENST00000266971.7:c.1281G>C | ENSP00000266971.3:p.Ser427= | |
| ENST00000356124.8:c.1281G>C | ENSP00000348440.4:p.Ser427= | |
| ENST00000394109.7:c.1281G>C | ENSP00000377668.3:p.Ser427= | |
| ENST00000394115.6:c.1281G>C | ENSP00000377674.2:p.Ser427= | |
| ENST00000548274.5:c.1281G>C | ENSP00000450245.1:p.Ser427= | |
| ENST00000550065.1:c.1281G>C | ENSP00000450264.1:p.Ser427= | |
| ENST00000551841.6:c.*469G>C | ENSP00000449443.1:n.*469G>C | |
| NM_000456.2:c.1281G>C | NP_000447.2:p.Ser427= | |
| NM_001032386.1:c.1281G>C | NP_001027558.1:p.Ser427= | |
| NM_001032387.1:c.1281G>C | NP_001027559.1:p.Ser427= | |
| XM_005269112.1:c.1302G>C | XP_005269169.1:p.Ser434= | |
| XM_017019905.2:c.1302G>C | XP_016875394.1:p.Ser434= | |
| XM_017019906.1:c.1302G>C | XP_016875395.1:p.Ser434= | |
| XM_017019907.2:c.1281G>C | XP_016875396.1:p.Ser427= | |
| XM_017019908.1:c.1281G>C | XP_016875397.1:p.Ser427= | |
| XM_024449167.1:c.1302G>C | XP_024304935.1:p.Ser434= | |
| NM_001032386.2:c.1281G>C MANE Select | NP_001027558.1:p.Ser427= | |
| NM_000456.3:c.1281G>C | NP_000447.2:p.Ser427= | |
| NM_001032387.2:c.1281G>C | NP_001027559.1:p.Ser427= |