Linked Data
dbSNP Id:
rs776748274
ExAC:
16:1412316 T / C
gnomAD v2:
16-1412316-T-C
gnomAD v3:
16-1362315-T-C
gnomAD v4:
16-1362315-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362315T>C , CM000678.2:g.1362315T>C | GRCh38 |
| NC_000016.9:g.1412316T>C , CM000678.1:g.1412316T>C | GRCh37 |
| NC_000016.8:g.1352317T>C | NCBI36 |
| NG_016985.1:g.15417T>C | |
| NG_033129.1:g.57390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.620T>C | ||
| ENST00000529110.2:c.605T>C | ENSP00000435349.2:p.Leu202Ser | |
| ENST00000529957.6:n.579T>C | ||
| ENST00000683366.1:c.*253T>C | ENSP00000507283.1:n.*253T>C | |
| ENST00000683887.1:c.569T>C | ENSP00000506886.1:p.Leu190Ser | |
| ENST00000684100.1:n.515T>C | ||
| ENST00000684126.1:n.579T>C | ||
| ENST00000684688.1:n.1146T>C | ||
| ENST00000204679.9:c.521T>C MANE Select | ENSP00000204679.4:p.Leu174Ser | |
| ENST00000204679.8:c.521T>C | ENSP00000204679.4:p.Leu174Ser | |
| ENST00000527076.1:n.1537T>C | ||
| ENST00000527168.5:n.557T>C | ||
| ENST00000529957.5:n.620T>C | ||
| NM_032520.4:c.521T>C | NP_115909.1:p.Leu174Ser | |
| XM_017023782.1:c.569T>C | XP_016879271.1:p.Leu190Ser | |
| XM_017023783.1:c.161T>C | XP_016879272.1:p.Leu54Ser | |
| NM_032520.5:c.521T>C MANE Select | NP_115909.1:p.Leu174Ser |