Linked Data
ClinVar Variation Id:
1168087
dbSNP Id:
rs140327086
ExAC:
16:28997868 T / C
gnomAD v2:
16-28997868-T-C
gnomAD v3:
16-28986547-T-C
gnomAD v4:
16-28986547-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28986547T>C , CM000678.2:g.28986547T>C | GRCh38 |
| NC_000016.9:g.28997868T>C , CM000678.1:g.28997868T>C | GRCh37 |
| NC_000016.8:g.28905369T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.571T>C | ||
| ENST00000354453.7:n.640T>C | ||
| ENST00000395456.7:c.318T>C MANE Select | ENSP00000378841.3:p.Ser106= | |
| ENST00000360872.9:c.318T>C | ENSP00000354119.5:p.Ser106= | |
| ENST00000395456.6:c.318T>C | ENSP00000378841.2:p.Ser106= | |
| ENST00000395461.7:c.426T>C | ENSP00000378845.3:p.Ser142= | |
| ENST00000454369.6:c.315T>C | ENSP00000398793.2:p.Ser105= | |
| ENST00000562701.5:c.345T>C | ENSP00000454793.1:n.345T>C | |
| ENST00000563964.5:n.585T>C | ||
| ENST00000564277.5:c.315T>C | ENSP00000457036.1:p.Ser105= | |
| ENST00000566177.5:c.315T>C | ENSP00000456761.1:p.Ser105= | |
| ENST00000568440.1:n.356T>C | ||
| ENST00000568899.5:n.202T>C | ||
| ENST00000570232.2:c.78T>C | ENSP00000455728.1:p.Ser26= | |
| NM_001014987.1:c.318T>C | NP_001014987.1:p.Ser106= | |
| NM_001014988.1:c.315T>C | NP_001014988.1:p.Ser105= | |
| NM_001014989.1:c.426T>C | NP_001014989.2:p.Ser142= | |
| NM_014387.3:c.318T>C | NP_055202.1:p.Ser106= | |
| NM_001014987.2:c.318T>C MANE Select | NP_001014987.1:p.Ser106= | |
| NM_001014988.2:c.315T>C | NP_001014988.1:p.Ser105= | |
| NM_001014989.2:c.426T>C | NP_001014989.2:p.Ser142= | |
| NM_014387.4:c.318T>C | NP_055202.1:p.Ser106= |