Linked Data
ClinVar Variation Id:
1433622
ClinVar RCV Id:
RCV001946109
dbSNP Id:
rs2144788073
gnomAD v4:
18-31070742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31070742G>A , CM000680.2:g.31070742G>A | GRCh38 |
| NC_000018.9:g.28650708G>A , CM000680.1:g.28650708G>A | GRCh37 |
| NC_000018.8:g.26904706G>A | NCBI36 |
| NG_008208.2:g.36684C>T , LRG_400:g.36684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1805C>T | ENSP00000507826.1:p.Pro602Leu | |
| ENST00000251081.8:c.2234C>T | ENSP00000251081.6:p.Pro745Leu | |
| ENST00000280904.11:c.2234C>T MANE Select | ENSP00000280904.6:p.Pro745Leu | |
| ENST00000648081.1:c.1805C>T | ENSP00000497441.1:p.Pro602Leu | |
| ENST00000251081.6:c.2234C>T | ENSP00000251081.6:p.Pro745Leu | |
| ENST00000280904.10:c.2234C>T | ENSP00000280904.6:p.Pro745Leu | |
| NM_004949.4:c.2234C>T | NP_004940.1:p.Pro745Leu | |
| NM_024422.4:c.2234C>T | NP_077740.1:p.Pro745Leu | |
| XM_005258206.3:c.1805C>T | XP_005258263.1:p.Pro602Leu | |
| XM_005258206.4:c.1805C>T | XP_005258263.1:p.Pro602Leu | |
| NM_004949.5:c.2234C>T | NP_004940.1:p.Pro745Leu | |
| NM_024422.6:c.2234C>T MANE Select | NP_077740.1:p.Pro745Leu |