Linked Data
ClinVar Variation Id:
771967
ClinVar RCV Id:
RCV000951388
dbSNP Id:
rs1183635234
gnomAD v2:
7-143018529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321436C>T , CM000669.2:g.143321436C>T | GRCh38 |
| NC_000007.13:g.143018529C>T , CM000669.1:g.143018529C>T | GRCh37 |
| NC_000007.12:g.142728651C>T | NCBI36 |
| NG_009815.1:g.10311C>T | |
| NG_009815.2:g.10311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.505C>T | ENSP00000498052.2:p.Leu169= | |
| ENST00000343257.7:c.505C>T MANE Select | ENSP00000339867.2:p.Leu169= | |
| ENST00000432192.6:c.273C>T | ||
| ENST00000650516.1:c.505C>T | ENSP00000498052.1:p.Leu169= | |
| ENST00000343257.6:c.505C>T | ENSP00000339867.2:p.Leu169= | |
| NM_000083.2:c.505C>T | NP_000074.2:p.Leu169= | |
| NR_046453.1:n.592C>T | ||
| XM_011515781.1:c.505C>T | XP_011514083.1:p.Leu169= | |
| XM_017011739.1:c.212C>T | XP_016867228.1:p.Thr71Ile | |
| XM_017011740.1:c.212C>T | XP_016867229.1:p.Thr71Ile | |
| NM_000083.3:c.505C>T MANE Select | NP_000074.3:p.Leu169= | |
| NR_046453.2:n.607C>T |