Linked Data
ClinVar Variation Id:
1131164
ClinVar RCV Id:
RCV001464966
dbSNP Id:
rs774673554
ExAC:
16:1411954 C / T
gnomAD v2:
16-1411954-C-T
gnomAD v4:
16-1361953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361953C>T , CM000678.2:g.1361953C>T | GRCh38 |
| NC_000016.9:g.1411954C>T , CM000678.1:g.1411954C>T | GRCh37 |
| NC_000016.8:g.1351955C>T | NCBI36 |
| NG_016985.1:g.15055C>T | |
| NG_033129.1:g.57752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.414C>T | ||
| ENST00000529110.2:c.399C>T | ENSP00000435349.2:p.Leu133= | |
| ENST00000529957.6:n.373C>T | ||
| ENST00000683366.1:c.*47C>T | ENSP00000507283.1:n.*47C>T | |
| ENST00000683887.1:c.363C>T | ENSP00000506886.1:p.Leu121= | |
| ENST00000684100.1:n.309C>T | ||
| ENST00000684126.1:n.373C>T | ||
| ENST00000684688.1:n.940C>T | ||
| ENST00000204679.9:c.315C>T MANE Select | ENSP00000204679.4:p.Leu105= | |
| ENST00000204679.8:c.315C>T | ENSP00000204679.4:p.Leu105= | |
| ENST00000526820.5:c.*217C>T | ENSP00000434413.1:n.*217C>T | |
| ENST00000527076.1:n.1331C>T | ||
| ENST00000527168.5:n.351C>T | ||
| ENST00000529110.1:c.382C>T | ||
| ENST00000529957.5:n.414C>T | ||
| NM_032520.4:c.315C>T | NP_115909.1:p.Leu105= | |
| XM_017023782.1:c.363C>T | XP_016879271.1:p.Leu121= | |
| XM_017023783.1:c.-46C>T | XP_016879272.1:n.-46C>T | |
| NM_032520.5:c.315C>T MANE Select | NP_115909.1:p.Leu105= |