Linked Data
ClinVar Variation Id:
208257
ClinVar RCV Id:
RCV000207009
dbSNP Id:
rs864621979
gnomAD v4:
19-12664817-C-G
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12664817C>G , CM000681.2:g.12664817C>G | GRCh38 |
| NC_000019.9:g.12775631C>G , CM000681.1:g.12775631C>G | GRCh37 |
| NC_000019.8:g.12636631C>G | NCBI36 |
| NG_008318.1:g.6961G>C | |
| NG_015814.1:g.3014C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.605G>C MANE Select | ENSP00000395473.2:p.Arg202Pro | |
| ENST00000221363.8:c.605G>C | ENSP00000221363.4:p.Arg202Pro | |
| ENST00000456935.6:c.605G>C | ENSP00000395473.2:p.Arg202Pro | |
| ENST00000466794.5:n.587G>C | ||
| ENST00000486847.2:c.333+535G>C | ENSP00000470174.1:n.333+535G>C | |
| ENST00000596512.5:n.543G>C | ||
| NM_000528.3:c.605G>C | NP_000519.2:p.Arg202Pro | |
| NM_001173498.1:c.605G>C | NP_001166969.1:p.Arg202Pro | |
| XM_005259913.1:c.605G>C | XP_005259970.1:p.Arg202Pro | |
| XM_005259913.2:c.605G>C | XP_005259970.1:p.Arg202Pro | |
| XM_024451518.1:c.-414G>C | XP_024307286.1:n.-414G>C | |
| NM_000528.4:c.605G>C MANE Select | NP_000519.2:p.Arg202Pro | |
| NM_001173498.2:c.605G>C | NP_001166969.1:p.Arg202Pro |