Linked Data
ClinVar Variation Id:
3121784
ClinVar RCV Id:
RCV004411119
dbSNP Id:
rs745401642
ExAC:
1:9991978 C / A
gnomAD v2:
1-9991978-C-A
gnomAD v3:
1-9931920-C-A
gnomAD v4:
1-9931920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9931920C>A , CM000663.2:g.9931920C>A | GRCh38 |
| NC_000001.10:g.9991978C>A , CM000663.1:g.9991978C>A | GRCh37 |
| NC_000001.9:g.9914565C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377223.6:c.485G>T MANE Select | ENSP00000366430.1:p.Ser162Ile | |
| ENST00000377213.1:c.485G>T | ENSP00000366418.1:p.Ser162Ile | |
| ENST00000377223.5:c.485G>T | ENSP00000366430.1:p.Ser162Ile | |
| ENST00000400903.6:c.485G>T | ENSP00000383695.2:p.Ser162Ile | |
| ENST00000471853.1:n.261G>T | ||
| ENST00000488540.5:c.377G>T | ENSP00000468610.1:p.Ser126Ile | |
| NM_001316973.1:c.485G>T | NP_001303902.1:p.Ser162Ile | |
| NM_001316974.1:c.548G>T | NP_001303903.1:p.Ser183Ile | |
| NM_001316975.1:c.485G>T | NP_001303904.1:p.Ser162Ile | |
| NM_001316976.1:c.337-1463G>T | NP_001303905.1:n.337-1463G>T | |
| NM_032368.3:c.485G>T | NP_115744.2:p.Ser162Ile | |
| NM_032368.4:c.485G>T | NP_115744.2:p.Ser162Ile | |
| XM_005263506.1:c.485G>T | XP_005263563.1:p.Ser162Ile | |
| XM_005263509.1:c.337-1463G>T | XP_005263566.1:n.337-1463G>T | |
| XM_005263506.2:c.485G>T | XP_005263563.1:p.Ser162Ile | |
| XM_005263509.3:c.337-1463G>T | XP_005263566.1:n.337-1463G>T | |
| XM_017002546.1:c.485G>T | XP_016858035.1:p.Ser162Ile | |
| XM_017002547.1:c.485G>T | XP_016858036.1:p.Ser162Ile | |
| NM_032368.5:c.485G>T MANE Select | NP_115744.2:p.Ser162Ile | |
| NM_001316973.2:c.485G>T | NP_001303902.1:p.Ser162Ile | |
| NM_001316974.2:c.548G>T | NP_001303903.1:p.Ser183Ile | |
| NM_001316975.2:c.485G>T | NP_001303904.1:p.Ser162Ile | |
| NM_001316976.2:c.337-1463G>T | NP_001303905.1:n.337-1463G>T |