Linked Data
ClinVar Variation Id:
938937
ClinVar RCV Id:
RCV001208244
dbSNP Id:
rs766286036
ExAC:
7:143018553 C / G
gnomAD v2:
7-143018553-C-G
gnomAD v4:
7-143321460-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321460C>G , CM000669.2:g.143321460C>G | GRCh38 |
| NC_000007.13:g.143018553C>G , CM000669.1:g.143018553C>G | GRCh37 |
| NC_000007.12:g.142728675C>G | NCBI36 |
| NG_009815.1:g.10335C>G | |
| NG_009815.2:g.10335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.529C>G | ENSP00000498052.2:p.Leu177Val | |
| ENST00000343257.7:c.529C>G MANE Select | ENSP00000339867.2:p.Leu177Val | |
| ENST00000432192.6:c.297C>G | ||
| ENST00000650516.1:c.529C>G | ENSP00000498052.1:p.Leu177Val | |
| ENST00000343257.6:c.529C>G | ENSP00000339867.2:p.Leu177Val | |
| NM_000083.2:c.529C>G | NP_000074.2:p.Leu177Val | |
| NR_046453.1:n.616C>G | ||
| XM_011515781.1:c.529C>G | XP_011514083.1:p.Leu177Val | |
| XM_017011739.1:c.236C>G | XP_016867228.1:p.Pro79Arg | |
| XM_017011740.1:c.236C>G | XP_016867229.1:p.Pro79Arg | |
| NM_000083.3:c.529C>G MANE Select | NP_000074.3:p.Leu177Val | |
| NR_046453.2:n.631C>G |