Linked Data
dbSNP Id:
rs761568886
ExAC:
9:2635478 C / G
gnomAD v2:
9-2635478-C-G
gnomAD v4:
9-2635478-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2635478C>G , CM000671.2:g.2635478C>G | GRCh38 |
| NC_000009.11:g.2635478C>G , CM000671.1:g.2635478C>G | GRCh37 |
| NC_000009.10:g.2625478C>G | NCBI36 |
| NG_012741.1:g.18686C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382096.6:c.108C>G | ENSP00000371528.2:p.Ser36= | |
| ENST00000382100.8:c.108C>G MANE Select | ENSP00000371532.2:p.Ser36= | |
| ENST00000679851.1:n.93C>G | ||
| ENST00000680021.1:n.308C>G | ||
| ENST00000680243.1:c.108C>G | ENSP00000505911.1:p.Ser36= | |
| ENST00000680746.1:c.108C>G | ENSP00000505030.1:p.Ser36= | |
| ENST00000680891.1:c.206C>G | ENSP00000505167.1:p.Pro69Arg | |
| ENST00000681306.1:c.108C>G | ENSP00000506072.1:p.Ser36= | |
| ENST00000681618.1:c.108C>G | ENSP00000505773.1:p.Ser36= | |
| ENST00000681644.1:c.206C>G | ENSP00000505180.1:p.Pro69Arg | |
| ENST00000681770.1:n.96C>G | ||
| ENST00000681806.1:c.108C>G | ENSP00000505282.1:p.Ser36= | |
| ENST00000382096.5:c.108C>G | ENSP00000371528.1:p.Ser36= | |
| ENST00000382099.2:c.108C>G | ENSP00000371531.2:p.Ser36= | |
| ENST00000382100.7:c.108C>G | ENSP00000371532.2:p.Ser36= | |
| NM_001018056.1:c.108C>G | NP_001018066.1:p.Ser36= | |
| NM_003383.3:c.108C>G | NP_003374.3:p.Ser36= | |
| XM_011518029.1:c.108C>G | XP_011516331.1:p.Ser36= | |
| NM_001018056.2:c.108C>G | NP_001018066.1:p.Ser36= | |
| NM_001322225.1:c.108C>G | NP_001309154.1:p.Ser36= | |
| NM_001322226.1:c.108C>G | NP_001309155.1:p.Ser36= | |
| NM_003383.4:c.108C>G | NP_003374.3:p.Ser36= | |
| XR_001746373.2:n.512C>G | ||
| XR_002956805.1:n.512C>G | ||
| NM_003383.5:c.108C>G MANE Select | NP_003374.3:p.Ser36= | |
| NM_001018056.3:c.108C>G | NP_001018066.1:p.Ser36= | |
| NM_001322225.2:c.108C>G | NP_001309154.1:p.Ser36= | |
| NM_001322226.2:c.108C>G | NP_001309155.1:p.Ser36= |