Linked Data
ClinVar Variation Id:
2943892
ClinVar RCV Id:
RCV003803450
MyVariant Identifiers:
chr7:g.143048701T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351608T>C , CM000669.2:g.143351608T>C | GRCh38 |
| NC_000007.13:g.143048701T>C , CM000669.1:g.143048701T>C | GRCh37 |
| NC_000007.12:g.142758823T>C | NCBI36 |
| NG_009815.1:g.40483T>C | |
| NG_009815.2:g.40483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2610T>C | ENSP00000498052.2:p.Ile870= | |
| ENST00000343257.7:c.2610T>C MANE Select | ENSP00000339867.2:p.Ile870= | |
| ENST00000432192.6:c.2434T>C | ||
| ENST00000343257.6:c.2610T>C | ENSP00000339867.2:p.Ile870= | |
| NM_000083.2:c.2610T>C | NP_000074.2:p.Ile870= | |
| NR_046453.1:n.2550T>C | ||
| XM_011515781.1:c.2634T>C | XP_011514083.1:p.Ile878= | |
| XM_011515782.1:c.1356T>C | XP_011514084.1:p.Ile452= | |
| XM_011515782.2:c.1356T>C | XP_011514084.1:p.Ile452= | |
| XM_017011739.1:c.2184T>C | XP_016867228.1:p.Ile728= | |
| XM_017011740.1:c.2160T>C | XP_016867229.1:p.Ile720= | |
| NM_000083.3:c.2610T>C MANE Select | NP_000074.3:p.Ile870= | |
| NR_046453.2:n.2565T>C |