Linked Data
ClinVar Variation Id:
2416779
ClinVar RCV Id:
RCV003109030
dbSNP Id:
rs758125959
ExAC:
10:60549077 C / T
gnomAD v2:
10-60549077-C-T
gnomAD v3:
10-58789317-C-T
gnomAD v4:
10-58789317-C-T
COSMIC:
COSM1195248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58789317C>T , CM000672.2:g.58789317C>T | GRCh38 |
| NC_000010.10:g.60549077C>T , CM000672.1:g.60549077C>T | GRCh37 |
| NC_000010.9:g.60219083C>T | NCBI36 |
| NG_029759.2:g.281174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.656C>T MANE Select | ENSP00000362993.3:p.Pro219Leu | |
| ENST00000373886.7:c.656C>T | ENSP00000362993.3:p.Pro219Leu | |
| NM_001080512.2:c.656C>T | NP_001073981.1:p.Pro219Leu | |
| XM_005270169.3:c.515C>T | XP_005270226.1:p.Pro172Leu | |
| XM_011540185.1:c.728C>T | XP_011538487.1:p.Pro243Leu | |
| XM_011540186.1:c.728C>T | XP_011538488.1:p.Pro243Leu | |
| XM_011540187.1:c.728C>T | XP_011538489.1:p.Pro243Leu | |
| XM_011540188.1:c.512C>T | XP_011538490.1:p.Pro171Leu | |
| XM_011540189.1:c.500C>T | XP_011538491.1:p.Pro167Leu | |
| XM_011540190.1:c.416C>T | XP_011538492.1:p.Pro139Leu | |
| XM_011540191.1:c.272C>T | XP_011538493.1:p.Pro91Leu | |
| XM_005270169.5:c.515C>T | XP_005270226.1:p.Pro172Leu | |
| XM_011540185.2:c.728C>T | XP_011538487.1:p.Pro243Leu | |
| XM_011540190.3:c.416C>T | XP_011538492.1:p.Pro139Leu | |
| XM_011540191.2:c.272C>T | XP_011538493.1:p.Pro91Leu | |
| XM_017016677.1:c.524C>T | XP_016872166.1:p.Pro175Leu | |
| XM_017016678.1:c.512C>T | XP_016872167.1:p.Pro171Leu | |
| XM_024448174.1:c.743C>T | XP_024303942.1:p.Pro248Leu | |
| XM_024448175.1:c.416C>T | XP_024303943.1:p.Pro139Leu | |
| NM_001080512.3:c.656C>T MANE Select | NP_001073981.1:p.Pro219Leu |