Linked Data
ClinVar Variation Id:
354000
dbSNP Id:
rs372946517
ExAC:
5:59189325 G / T
gnomAD v2:
5-59189325-G-T
gnomAD v3:
5-59893498-G-T
gnomAD v4:
5-59893498-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59893498G>T , CM000667.2:g.59893498G>T | GRCh38 |
| NC_000005.9:g.59189325G>T , CM000667.1:g.59189325G>T | GRCh37 |
| NC_000005.8:g.59225082G>T | NCBI36 |
| NG_027957.1:g.599601C>A | |
| NG_027957.2:g.635832C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340635.11:c.125C>A MANE Select | ENSP00000345502.6:p.Pro42Gln | |
| ENST00000340635.10:c.125C>A | ENSP00000345502.6:p.Pro42Gln | |
| ENST00000502484.6:c.272+94990C>A | ENSP00000423094.2:n.272+94990C>A | |
| ENST00000512069.6:n.217+94990C>A | ||
| ENST00000514231.1:n.145+94990C>A | ||
| NM_001104631.1:c.125C>A | NP_001098101.1:p.Pro42Gln | |
| NM_001165899.1:c.272+94990C>A | NP_001159371.1:n.272+94990C>A | |
| XM_011543469.1:c.419+94990C>A | XP_011541771.1:n.419+94990C>A | |
| XM_011543470.1:c.419+94990C>A | XP_011541772.1:n.419+94990C>A | |
| XM_011543471.1:c.272+94990C>A | XP_011541773.1:n.272+94990C>A | |
| XM_011543472.1:c.272+94990C>A | XP_011541774.1:n.272+94990C>A | |
| XM_011543473.1:c.272+94990C>A | XP_011541775.1:n.272+94990C>A | |
| XM_011543474.1:c.242+94990C>A | XP_011541776.1:n.242+94990C>A | |
| NM_001349241.1:c.242+94990C>A | NP_001336170.1:n.242+94990C>A | |
| NM_001349243.1:c.-240+94990C>A | NP_001336172.1:n.-240+94990C>A | |
| NM_001364599.1:c.272+94990C>A | NP_001351528.1:n.272+94990C>A | |
| NM_001364600.1:c.272+94990C>A | NP_001351529.1:n.272+94990C>A | |
| XM_011543470.2:c.419+94990C>A | XP_011541772.1:n.419+94990C>A | |
| XM_011543471.2:c.272+94990C>A | XP_011541773.1:n.272+94990C>A | |
| XM_017009565.1:c.419+94990C>A | XP_016865054.1:n.419+94990C>A | |
| XM_017009566.1:c.272+94990C>A | XP_016865055.1:n.272+94990C>A | |
| XM_017009567.1:c.257+94990C>A | XP_016865056.1:n.257+94990C>A | |
| XM_024446110.1:c.419+94990C>A | XP_024301878.1:n.419+94990C>A | |
| XM_024446112.1:c.272+94990C>A | XP_024301880.1:n.272+94990C>A | |
| NM_001104631.2:c.125C>A MANE Select | NP_001098101.1:p.Pro42Gln | |
| NM_001165899.2:c.272+94990C>A | NP_001159371.1:n.272+94990C>A | |
| NM_001349241.2:c.242+94990C>A | NP_001336170.1:n.242+94990C>A | |
| NM_001349243.2:c.-240+94990C>A | NP_001336172.1:n.-240+94990C>A | |
| NM_001364600.2:c.272+94990C>A | NP_001351529.1:n.272+94990C>A |