Linked Data
ClinVar Variation Id:
120316
ClinVar RCV Id:
RCV000106398
dbSNP Id:
rs483352860
ExAC:
16:16110459 C / T
gnomAD v2:
16-16110459-C-T
gnomAD v3:
16-16016602-C-T
gnomAD v4:
16-16016602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016602C>T , CM000678.2:g.16016602C>T | GRCh38 |
| NC_000016.9:g.16110459C>T , CM000678.1:g.16110459C>T | GRCh37 |
| NC_000016.8:g.16017960C>T | NCBI36 |
| NG_028268.1:g.72026C>T | |
| NG_028268.2:g.72026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.596C>T | ENSP00000382340.4:p.Ser199Leu | |
| ENST00000399410.8:c.596C>T MANE Select | ENSP00000382342.3:p.Ser199Leu | |
| ENST00000572882.3:c.596C>T | ENSP00000461615.2:p.Ser199Leu | |
| ENST00000574224.2:n.671C>T | ||
| ENST00000677164.1:c.489+1974C>T | ENSP00000502873.1:n.489+1974C>T | |
| ENST00000678422.1:c.596C>T | ENSP00000503954.1:p.Ser199Leu | |
| ENST00000679043.1:n.548C>T | ||
| ENST00000399408.6:c.-383C>T | ENSP00000382340.3:n.-383C>T | |
| ENST00000399410.7:c.596C>T | ENSP00000382342.3:p.Ser199Leu | |
| ENST00000572882.2:c.291C>T | ||
| ENST00000574224.1:n.196C>T | ||
| NM_004996.3:c.596C>T | NP_004987.2:p.Ser199Leu | |
| XM_011522497.1:c.572C>T | XP_011520799.1:p.Ser191Leu | |
| XM_011522498.1:c.650C>T | XP_011520800.1:p.Ser217Leu | |
| XM_011522498.2:c.650C>T | XP_011520800.1:p.Ser217Leu | |
| XM_017023237.1:c.650C>T | XP_016878726.1:p.Ser217Leu | |
| XM_017023238.1:c.543+1974C>T | XP_016878727.1:n.543+1974C>T | |
| XM_017023239.1:c.512C>T | XP_016878728.1:p.Ser171Leu | |
| XM_017023240.1:c.650C>T | XP_016878729.1:p.Ser217Leu | |
| XM_017023241.1:c.405+6701C>T | XP_016878730.1:n.405+6701C>T | |
| XM_017023242.1:c.650C>T | XP_016878731.1:p.Ser217Leu | |
| XM_017023243.2:c.650C>T | XP_016878732.1:p.Ser217Leu | |
| NM_004996.4:c.596C>T MANE Select | NP_004987.2:p.Ser199Leu |