Linked Data
ClinVar Variation Id:
161679
ClinVar RCV Id:
RCV000149215
dbSNP Id:
rs193920906
ExAC:
19:5604877 G / A
gnomAD v2:
19-5604877-G-A
gnomAD v4:
19-5604866-G-A
COSMIC:
COSM1180153
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5604866G>A , CM000681.2:g.5604866G>A | GRCh38 |
| NC_000019.9:g.5604877G>A , CM000681.1:g.5604877G>A | GRCh37 |
| NC_000019.8:g.5555877G>A | NCBI36 |
| NG_050735.1:g.23062C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252542.9:c.1367C>T MANE Select | ENSP00000252542.3:p.Ser456Leu | |
| ENST00000252542.8:c.1367C>T | ENSP00000252542.3:p.Ser456Leu | |
| ENST00000591101.5:n.312C>T | ||
| ENST00000591123.5:c.460C>T | ENSP00000467981.1:n.460C>T | |
| ENST00000591310.1:n.495C>T | ||
| ENST00000592599.5:n.2007C>T | ||
| NM_014649.2:c.1367C>T | NP_055464.1:p.Ser456Leu | |
| XM_005259688.2:c.5C>T | XP_005259745.1:p.Ser2Leu | |
| XM_011528449.1:c.1367C>T | XP_011526751.1:p.Ser456Leu | |
| XM_011528450.1:c.5C>T | XP_011526752.1:p.Ser2Leu | |
| XM_011528449.3:c.1367C>T | XP_011526751.1:p.Ser456Leu | |
| XM_011528450.3:c.5C>T | XP_011526752.1:p.Ser2Leu | |
| XM_017027520.2:c.5C>T | XP_016883009.1:p.Ser2Leu | |
| XM_017027522.2:c.5C>T | XP_016883011.1:p.Ser2Leu | |
| XM_024451801.1:c.227C>T | XP_024307569.1:p.Ser76Leu | |
| XM_024451802.1:c.200C>T | XP_024307570.1:p.Ser67Leu | |
| XM_024451803.1:c.5C>T | XP_024307571.1:p.Ser2Leu | |
| XM_024451804.1:c.5C>T | XP_024307572.1:p.Ser2Leu | |
| XM_024451805.1:c.5C>T | XP_024307573.1:p.Ser2Leu | |
| NM_014649.3:c.1367C>T MANE Select | NP_055464.1:p.Ser456Leu |