Linked Data
ClinVar Variation Id:
1106957
ClinVar RCV Id:
RCV001431869
dbSNP Id:
rs1347265181
gnomAD v2:
12-103248987-T-G
gnomAD v3:
12-102855209-T-G
gnomAD v4:
12-102855209-T-G
MyVariant Identifiers:
chr12:g.103248987T>G (hg19)
chr12:g.103248987_103248988delinsGG (hg19)
chr12:g.102855209T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855209T>G , CM000674.2:g.102855209T>G | GRCh38 |
| NC_000012.11:g.103248987T>G , CM000674.1:g.103248987T>G | GRCh37 |
| NC_000012.10:g.101773117T>G | NCBI36 |
| NG_008690.1:g.67394A>C | |
| NG_008690.2:g.108202A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.633A>C MANE Select | ENSP00000448059.1:p.Pro211= | |
| ENST00000307000.7:c.618A>C | ENSP00000303500.2:p.Pro206= | |
| ENST00000549111.5:n.729A>C | ||
| ENST00000553106.5:c.633A>C | ENSP00000448059.1:p.Pro211= | |
| NM_000277.1:c.633A>C | NP_000268.1:p.Pro211= | |
| XM_011538422.1:c.633A>C | XP_011536724.1:p.Pro211= | |
| NM_000277.2:c.633A>C | NP_000268.1:p.Pro211= | |
| NM_001354304.1:c.633A>C | NP_001341233.1:p.Pro211= | |
| XM_017019370.2:c.633A>C | XP_016874859.1:p.Pro211= | |
| NM_000277.3:c.633A>C MANE Select | NP_000268.1:p.Pro211= | |
| NM_001354304.2:c.633A>C | NP_001341233.1:p.Pro211= |