Linked Data
ClinVar Variation Id:
296889
dbSNP Id:
rs2228424
ExAC:
1:24192068 G / A
gnomAD v2:
1-24192068-G-A
gnomAD v3:
1-23865578-G-A
gnomAD v4:
1-23865578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865578G>A , CM000663.2:g.23865578G>A | GRCh38 |
| NC_000001.10:g.24192068G>A , CM000663.1:g.24192068G>A | GRCh37 |
| NC_000001.9:g.24064655G>A | NCBI36 |
| NG_013346.1:g.7792C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374479.4:c.437C>T MANE Select | ENSP00000363603.3:p.Pro146Leu | |
| ENST00000374479.3:c.437C>T | ENSP00000363603.3:p.Pro146Leu | |
| NM_000147.4:c.437C>T | NP_000138.2:p.Pro146Leu | |
| XM_005245821.1:c.62C>T | XP_005245878.1:p.Pro21Leu | |
| XM_011541167.1:c.-197C>T | XP_011539469.1:n.-197C>T | |
| XM_005245821.3:c.62C>T | XP_005245878.1:p.Pro21Leu | |
| XM_011541167.3:c.-197C>T | XP_011539469.1:n.-197C>T | |
| XM_017000905.2:c.134C>T | XP_016856394.1:p.Pro45Leu | |
| NM_000147.5:c.437C>T MANE Select | NP_000138.2:p.Pro146Leu | |
| NR_174379.1:n.615C>T | ||
| NR_174380.1:n.664C>T | ||
| NR_174381.1:n.503C>T | ||
| NR_174382.1:n.900C>T |