Linked Data
ClinVar Variation Id:
3878
ClinVar RCV Id:
RCV000004082
RCV000004084
RCV000079058
RCV000174009
RCV002251870
RCV003407272
RCV004018549
dbSNP Id:
rs28942073
ExAC:
5:74014629 C / T
gnomAD v2:
5-74014629-C-T
gnomAD v3:
5-74718804-C-T
gnomAD v4:
5-74718804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718804C>T , CM000667.2:g.74718804C>T | GRCh38 |
| NC_000005.9:g.74014629C>T , CM000667.1:g.74014629C>T | GRCh37 |
| NC_000005.8:g.74050385C>T | NCBI36 |
| NG_009770.1:g.38661C>T | |
| NG_009770.2:g.83782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1250C>T MANE Select | ENSP00000261416.7:p.Pro417Leu | |
| ENST00000261416.11:c.1250C>T | ENSP00000261416.7:p.Pro417Leu | |
| ENST00000503312.5:c.126C>T | ||
| ENST00000504459.5:n.447C>T | ||
| ENST00000511181.5:c.575C>T | ENSP00000426285.1:p.Pro192Leu | |
| ENST00000513336.5:c.186C>T | ||
| ENST00000513539.1:n.74-105C>T | ||
| NM_000521.3:c.1250C>T | NP_000512.1:p.Pro417Leu | |
| NM_001292004.1:c.575C>T | NP_001278933.1:p.Pro192Leu | |
| NM_000521.4:c.1250C>T MANE Select | NP_000512.2:p.Pro417Leu | |
| NM_001292004.2:c.575C>T | NP_001278933.1:p.Pro192Leu |