Linked Data
ClinVar Variation Id:
318008
ClinVar RCV Id:
RCV000263838
dbSNP Id:
rs752664070
ExAC:
16:1570738 G / C
gnomAD v2:
16-1570738-G-C
gnomAD v3:
16-1520737-G-C
gnomAD v4:
16-1520737-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1520737G>C , CM000678.2:g.1520737G>C | GRCh38 |
| NC_000016.9:g.1570738G>C , CM000678.1:g.1570738G>C | GRCh37 |
| NC_000016.8:g.1510739G>C | NCBI36 |
| NG_032783.1:g.96372C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.3525C>G MANE Select | ENSP00000406012.2:p.Thr1175= | |
| ENST00000361339.9:c.1107C>G | ENSP00000354895.5:p.Thr369= | |
| ENST00000397417.6:c.*1963C>G | ENSP00000380562.2:n.*1963C>G | |
| ENST00000426508.6:c.3525C>G | ENSP00000406012.2:p.Thr1175= | |
| ENST00000565298.5:n.3349C>G | ||
| NM_014714.3:c.3525C>G | NP_055529.2:p.Thr1175= | |
| XM_006720989.2:c.3525C>G | XP_006721052.1:p.Thr1175= | |
| XM_006720990.2:c.3525C>G | XP_006721053.1:p.Thr1175= | |
| XM_006720991.2:c.3525C>G | XP_006721054.1:p.Thr1175= | |
| XM_006720992.2:c.1158C>G | XP_006721055.1:p.Thr386= | |
| XM_011522766.1:c.3279C>G | XP_011521068.1:p.Thr1093= | |
| XM_011522767.1:c.2550C>G | XP_011521069.1:p.Thr850= | |
| XM_006720990.3:c.3525C>G | XP_006721053.1:p.Thr1175= | |
| XM_006720991.3:c.3525C>G | XP_006721054.1:p.Thr1175= | |
| XM_006720992.3:c.1158C>G | XP_006721055.1:p.Thr386= | |
| XM_011522766.3:c.3279C>G | XP_011521068.1:p.Thr1093= | |
| XM_011522767.2:c.2550C>G | XP_011521069.1:p.Thr850= | |
| XM_017023910.1:c.3525C>G | XP_016879399.1:p.Thr1175= | |
| XM_017023911.1:c.1710C>G | XP_016879400.1:p.Thr570= | |
| NM_014714.4:c.3525C>G MANE Select | NP_055529.2:p.Thr1175= |