Linked Data
ClinVar Variation Id:
1086061
dbSNP Id:
rs1948713794
gnomAD v4:
12-13571935-A-G
COSMIC:
COSM5970618
MyVariant Identifiers:
chr12:g.13724869A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13571935A>G , CM000674.2:g.13571935A>G | GRCh38 |
| NC_000012.11:g.13724869A>G , CM000674.1:g.13724869A>G | GRCh37 |
| NC_000012.10:g.13616136A>G | NCBI36 |
| NG_031854.1:g.413154T>C | |
| NG_031854.2:g.415078T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.2040T>C MANE Select | ENSP00000477455.1:p.Pro680= | |
| ENST00000628166.2:n.300T>C | ||
| ENST00000637214.1:c.69+36668T>C | ENSP00000489997.1:n.69+36668T>C | |
| ENST00000609686.3:c.2040T>C | ENSP00000477455.1:p.Pro680= | |
| ENST00000628166.1:n.300T>C | ||
| NM_000834.3:c.2040T>C | NP_000825.2:p.Pro680= | |
| XM_005253351.2:c.-43-1918T>C | XP_005253408.1:n.-43-1918T>C | |
| XM_011520628.1:c.2040T>C | XP_011518930.1:p.Pro680= | |
| XM_011520629.1:c.2040T>C | XP_011518931.1:p.Pro680= | |
| XM_011520630.1:c.2040T>C | XP_011518932.1:p.Pro680= | |
| NM_000834.4:c.2040T>C | NP_000825.2:p.Pro680= | |
| XM_005253351.3:c.-43-1918T>C | XP_005253408.1:n.-43-1918T>C | |
| XM_011520628.2:c.2040T>C | XP_011518930.1:p.Pro680= | |
| XM_011520629.2:c.2040T>C | XP_011518931.1:p.Pro680= | |
| XM_017019219.2:c.2040T>C | XP_016874708.1:p.Pro680= | |
| NM_000834.5:c.2040T>C MANE Select | NP_000825.2:p.Pro680= |