Linked Data
ClinVar Variation Id:
2200301
ClinVar RCV Id:
RCV002644095
dbSNP Id:
rs4253208
ExAC:
10:50678722 G / A
gnomAD v2:
10-50678722-G-A
gnomAD v3:
10-49470676-G-A
gnomAD v4:
10-49470676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470676G>A , CM000672.2:g.49470676G>A | GRCh38 |
| NC_000010.10:g.50678722G>A , CM000672.1:g.50678722G>A | GRCh37 |
| NC_000010.9:g.50348728G>A | NCBI36 |
| NG_009442.1:g.73426C>T , LRG_465:g.73426C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.3284C>T MANE Select | ENSP00000348089.5:p.Pro1095Leu | |
| ENST00000679552.1:n.355C>T | ||
| ENST00000679871.1:n.430C>T | ||
| ENST00000679974.1:n.333C>T | ||
| ENST00000681632.1:n.4687C>T | ||
| ENST00000681659.1:c.3125C>T | ENSP00000505631.1:p.Pro1042Leu | |
| ENST00000355832.9:c.3284C>T | ENSP00000348089.5:p.Pro1095Leu | |
| ENST00000623073.3:c.*1580C>T | ENSP00000485650.1:n.*1580C>T | |
| ENST00000623115.3:c.1394C>T | ENSP00000485321.1:p.Pro465Leu | |
| ENST00000624341.3:c.1116C>T | ||
| NM_000124.3:c.3284C>T | NP_000115.1:p.Pro1095Leu | |
| XR_945953.1:n.243-889G>A | ||
| NM_001346440.1:c.3284C>T | NP_001333369.1:p.Pro1095Leu | |
| NM_000124.4:c.3284C>T MANE Select | NP_000115.1:p.Pro1095Leu | |
| NM_001346440.2:c.3284C>T | NP_001333369.1:p.Pro1095Leu |