Linked Data
ClinVar Variation Id:
357947
ClinVar RCV Id:
RCV000272182
RCV000322535
RCV000379457
RCV000485378
RCV000470079
RCV001190426
RCV002480238
RCV002323559
RCV003995896
dbSNP Id:
rs751361395
ExAC:
6:7579569 C / T
gnomAD v2:
6-7579569-C-T
gnomAD v3:
6-7579336-C-T
gnomAD v4:
6-7579336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579336C>T , CM000668.2:g.7579336C>T | GRCh38 |
| NC_000006.11:g.7579569C>T , CM000668.1:g.7579569C>T | GRCh37 |
| NC_000006.10:g.7524568C>T | NCBI36 |
| NG_008803.1:g.42700C>T , LRG_423:g.42700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3146C>T | ENSP00000518230.1:p.Ser1049Leu | |
| ENST00000379802.8:c.3146C>T MANE Select | ENSP00000369129.3:p.Ser1049Leu | |
| ENST00000379802.7:c.3146C>T | ENSP00000369129.3:p.Ser1049Leu | |
| ENST00000418664.2:c.3146C>T | ENSP00000396591.2:p.Ser1049Leu | |
| NM_001008844.1:c.3146C>T | NP_001008844.1:p.Ser1049Leu | |
| NM_004415.2:c.3146C>T , LRG_423t1:c.3146C>T | NP_004406.2:p.Ser1049Leu | |
| XM_011514323.1:c.3146C>T | XP_011512625.1:p.Ser1049Leu | |
| NM_001008844.2:c.3146C>T | NP_001008844.1:p.Ser1049Leu | |
| NM_001319034.1:c.3146C>T | NP_001305963.1:p.Ser1049Leu | |
| NM_004415.3:c.3146C>T | NP_004406.2:p.Ser1049Leu | |
| NM_004415.4:c.3146C>T MANE Select | NP_004406.2:p.Ser1049Leu | |
| NM_001008844.3:c.3146C>T | NP_001008844.1:p.Ser1049Leu | |
| NM_001319034.2:c.3146C>T | NP_001305963.1:p.Ser1049Leu |