Linked Data
ClinVar Variation Id:
595268
ClinVar RCV Id:
RCV000730773
dbSNP Id:
rs760005338
ExAC:
2:44066227 C / T
gnomAD v2:
2-44066227-C-T
gnomAD v3:
2-43839088-C-T
gnomAD v4:
2-43839088-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43839088C>T , CM000664.2:g.43839088C>T | GRCh38 |
| NC_000002.11:g.44066227C>T , CM000664.1:g.44066227C>T | GRCh37 |
| NC_000002.10:g.43919731C>T | NCBI36 |
| NG_008883.1:g.4732G>A | |
| NG_008884.1:g.5125C>T | |
| NG_008884.2:g.12147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.35C>T MANE Select | ENSP00000272286.2:p.Pro12Leu | |
| ENST00000643284.1:n.521-5419C>T | ||
| ENST00000644611.1:c.76-5419C>T | ENSP00000495423.1:n.76-5419C>T | |
| ENST00000272286.2:c.35C>T | ENSP00000272286.2:p.Pro12Leu | |
| NM_022437.2:c.35C>T | NP_071882.1:p.Pro12Leu | |
| XM_005264483.2:c.35C>T | XP_005264540.1:p.Pro12Leu | |
| XM_011533029.1:c.76-5419C>T | XP_011531331.1:n.76-5419C>T | |
| XM_011533030.1:c.76-5419C>T | XP_011531332.1:n.76-5419C>T | |
| XM_011533031.1:c.-153-5419C>T | XP_011531333.1:n.-153-5419C>T | |
| XR_939707.1:n.566-5419C>T | ||
| NM_001357321.1:c.35C>T | NP_001344250.1:p.Pro12Leu | |
| XM_011533029.2:c.76-5419C>T | XP_011531331.1:n.76-5419C>T | |
| XM_011533030.2:c.76-5419C>T | XP_011531332.1:n.76-5419C>T | |
| XR_001738891.1:n.580-5419C>T | ||
| XR_939707.2:n.580-5419C>T | ||
| NM_022437.3:c.35C>T MANE Select | NP_071882.1:p.Pro12Leu | |
| NM_001357321.2:c.35C>T | NP_001344250.1:p.Pro12Leu |