Linked Data
ClinVar Variation Id:
2005347
ClinVar RCV Id:
RCV002820962
MyVariant Identifiers:
chr12:g.13716017G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13563083G>A , CM000674.2:g.13563083G>A | GRCh38 |
| NC_000012.11:g.13716017G>A , CM000674.1:g.13716017G>A | GRCh37 |
| NC_000012.10:g.13607284G>A | NCBI36 |
| NG_031854.1:g.422006C>T | |
| NG_031854.2:g.423930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.4155C>T MANE Select | ENSP00000477455.1:p.Asn1385= | |
| ENST00000637214.1:c.69+45520C>T | ENSP00000489997.1:n.69+45520C>T | |
| ENST00000609686.3:c.4155C>T | ENSP00000477455.1:p.Asn1385= | |
| ENST00000628166.1:n.2415C>T | ||
| NM_000834.3:c.4155C>T | NP_000825.2:p.Asn1385= | |
| XM_005253351.2:c.1941C>T | XP_005253408.1:p.Asn647= | |
| XM_011520628.1:c.4155C>T | XP_011518930.1:p.Asn1385= | |
| XM_011520629.1:c.4155C>T | XP_011518931.1:p.Asn1385= | |
| XM_011520630.1:c.4155C>T | XP_011518932.1:p.Asn1385= | |
| NM_000834.4:c.4155C>T | NP_000825.2:p.Asn1385= | |
| XM_005253351.3:c.1941C>T | XP_005253408.1:p.Asn647= | |
| XM_011520628.2:c.4155C>T | XP_011518930.1:p.Asn1385= | |
| XM_011520629.2:c.4155C>T | XP_011518931.1:p.Asn1385= | |
| XM_017019219.2:c.4155C>T | XP_016874708.1:p.Asn1385= | |
| NM_000834.5:c.4155C>T MANE Select | NP_000825.2:p.Asn1385= |