Linked Data
ClinVar Variation Id:
2853446
ClinVar RCV Id:
RCV003696041
MyVariant Identifiers:
chr4:g.187126374T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205220T>C , CM000666.2:g.186205220T>C | GRCh38 |
| NC_000004.11:g.187126374T>C , CM000666.1:g.187126374T>C | GRCh37 |
| NC_000004.10:g.187363368T>C | NCBI36 |
| NG_007965.1:g.18701T>C | |
| NG_012095.2:g.1242T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1008T>C MANE Select | ENSP00000368079.4:p.Ala336= | |
| ENST00000378802.4:c.1008T>C | ENSP00000368079.4:p.Ala336= | |
| ENST00000502665.1:n.243T>C | ||
| ENST00000507209.5:n.5706T>C | ||
| ENST00000513354.5:n.98T>C | ||
| NM_207352.3:c.1008T>C | NP_997235.3:p.Ala336= | |
| XM_005262935.2:c.1008T>C | XP_005262992.1:p.Ala336= | |
| XM_006714184.2:c.612T>C | XP_006714247.1:p.Ala204= | |
| XM_005262935.4:c.1008T>C | XP_005262992.1:p.Ala336= | |
| XM_017008037.1:c.612T>C | XP_016863526.1:p.Ala204= | |
| NM_207352.4:c.1008T>C MANE Select | NP_997235.3:p.Ala336= |