Linked Data
ClinVar Variation Id:
192325
ClinVar RCV Id:
RCV000172915
dbSNP Id:
rs794726858
PubMed:
PMID:24699222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102919286C>G , CM000672.2:g.102919286C>G | GRCh38 |
| NC_000010.10:g.104679043C>G , CM000672.1:g.104679043C>G | GRCh37 |
| NC_000010.9:g.104669033C>G | NCBI36 |
| NG_031932.1:g.5969C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.806C>G MANE Select | ENSP00000358894.3:p.Ser269Trp | |
| ENST00000369875.3:c.806C>G | ENSP00000358891.3:p.Ser269Trp | |
| ENST00000369878.8:c.806C>G | ENSP00000358894.3:p.Ser269Trp | |
| ENST00000433628.2:c.806C>G | ENSP00000392875.2:p.Ser269Trp | |
| NM_017649.4:c.806C>G | NP_060119.3:p.Ser269Trp | |
| NM_199076.2:c.806C>G | NP_951058.1:p.Ser269Trp | |
| NM_199077.2:c.806C>G | NP_951059.1:p.Ser269Trp | |
| XM_005269933.3:c.806C>G | XP_005269990.1:p.Ser269Trp | |
| XM_006717908.2:c.806C>G | XP_006717971.1:p.Ser269Trp | |
| XM_011539911.1:c.806C>G | XP_011538213.1:p.Ser269Trp | |
| XR_945780.1:n.994C>G | ||
| XR_945781.1:n.994C>G | ||
| XR_945782.1:n.994C>G | ||
| XM_005269933.4:c.806C>G | XP_005269990.1:p.Ser269Trp | |
| XM_011539911.3:c.806C>G | XP_011538213.1:p.Ser269Trp | |
| XR_001747118.1:n.994C>G | ||
| XR_001747119.2:n.994C>G | ||
| XR_001747120.1:n.994C>G | ||
| XR_001747121.1:n.994C>G | ||
| XR_945782.3:n.994C>G | ||
| NM_017649.5:c.806C>G MANE Select | NP_060119.3:p.Ser269Trp | |
| NM_199076.3:c.806C>G | NP_951058.1:p.Ser269Trp | |
| NM_199077.3:c.806C>G | NP_951059.1:p.Ser269Trp |