Linked Data
ClinVar Variation Id:
195391
dbSNP Id:
rs146573280
ExAC:
2:71351612 G / C
gnomAD v2:
2-71351612-G-C
gnomAD v3:
2-71124482-G-C
gnomAD v4:
2-71124482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124482G>C , CM000664.2:g.71124482G>C | GRCh38 |
| NC_000002.11:g.71351612G>C , CM000664.1:g.71351612G>C | GRCh37 |
| NC_000002.10:g.71205120G>C | NCBI36 |
| NG_008977.1:g.10783C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.102C>G MANE Select | ENSP00000244217.5:p.Pro34= | |
| ENST00000244217.5:c.102C>G | ENSP00000244217.5:p.Pro34= | |
| ENST00000486135.1:c.-184C>G | ENSP00000441569.1:n.-184C>G | |
| ENST00000494660.6:c.-184C>G | ENSP00000437361.1:n.-184C>G | |
| NM_032601.3:c.102C>G | NP_115990.3:p.Pro34= | |
| XM_005264613.2:c.102C>G | XP_005264670.1:p.Pro34= | |
| XR_939729.1:n.171C>G | ||
| XR_939729.2:n.171C>G | ||
| NM_032601.4:c.102C>G MANE Select | NP_115990.3:p.Pro34= |