Linked Data
ClinVar Variation Id:
1954308
ClinVar RCV Id:
RCV002705515
dbSNP Id:
rs760099526
gnomAD v3:
4-177442272-G-A
gnomAD v4:
4-177442272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442272G>A , CM000666.2:g.177442272G>A | GRCh38 |
| NC_000004.11:g.178363426G>A , CM000666.1:g.178363426G>A | GRCh37 |
| NC_000004.10:g.178600420G>A | NCBI36 |
| NG_011845.2:g.5232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.104C>T MANE Select | ENSP00000264595.2:p.Pro35Leu | |
| ENST00000264595.6:c.104C>T | ENSP00000264595.2:p.Pro35Leu | |
| ENST00000506853.5:n.138C>T | ||
| ENST00000510955.5:n.138C>T | ||
| ENST00000511231.1:n.138C>T | ||
| NM_000027.3:c.104C>T | NP_000018.2:p.Pro35Leu | |
| NM_001171988.1:c.104C>T | NP_001165459.1:p.Pro35Leu | |
| NR_033655.1:n.232C>T | ||
| XM_006714123.2:c.104C>T | XP_006714186.1:p.Pro35Leu | |
| XR_001741155.2:n.198C>T | ||
| NM_000027.4:c.104C>T MANE Select | NP_000018.2:p.Pro35Leu | |
| NM_001171988.2:c.104C>T | NP_001165459.1:p.Pro35Leu | |
| NR_033655.2:n.166C>T |