Linked Data
ClinVar Variation Id:
376039
ClinVar RCV Id:
RCV000423006
dbSNP Id:
rs1057519754
gnomAD v4:
19-40236313-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40236313T>C , CM000681.2:g.40236313T>C | GRCh38 |
| NC_000019.9:g.40742220T>C , CM000681.1:g.40742220T>C | GRCh37 |
| NC_000019.8:g.45434060T>C | NCBI36 |
| NG_012038.2:g.54046A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.7:c.904A>G MANE Select | ENSP00000375892.2:p.Ser302Gly | |
| ENST00000578615.6:c.783A>G | ||
| ENST00000311278.10:c.832-209A>G | ENSP00000309428.6:n.832-209A>G | |
| ENST00000391844.8:c.*518A>G | ENSP00000375719.4:n.*518A>G | |
| ENST00000391845.6:n.369A>G | ||
| ENST00000392038.6:c.904A>G | ENSP00000375892.2:p.Ser302Gly | |
| ENST00000424901.5:c.832-209A>G | ENSP00000399532.2:n.832-209A>G | |
| ENST00000476266.5:n.1232A>G | ||
| ENST00000480878.6:n.331A>G | ||
| ENST00000483166.5:n.2375A>G | ||
| ENST00000486647.5:n.320A>G | ||
| ENST00000496089.6:n.171A>G | ||
| ENST00000578282.5:n.225-209A>G | ||
| ENST00000578310.1:c.147A>G | ||
| ENST00000578615.5:c.472A>G | ENSP00000463262.1:p.Ser158Gly | |
| ENST00000579047.5:c.718A>G | ENSP00000471369.1:p.Ser240Gly | |
| ENST00000579345.5:n.424A>G | ||
| ENST00000580878.1:n.561A>G | ||
| ENST00000584288.5:c.*518A>G | ENSP00000462469.1:n.*518A>G | |
| NM_001243027.2:c.718A>G | NP_001229956.1:p.Ser240Gly | |
| NM_001243028.2:c.718A>G | NP_001229957.1:p.Ser240Gly | |
| NM_001626.5:c.904A>G | NP_001617.1:p.Ser302Gly | |
| XM_011526614.1:c.904A>G | XP_011524916.1:p.Ser302Gly | |
| XM_011526615.1:c.904A>G | XP_011524917.1:p.Ser302Gly | |
| XM_011526616.1:c.904A>G | XP_011524918.1:p.Ser302Gly | |
| XM_011526617.1:c.904A>G | XP_011524919.1:p.Ser302Gly | |
| XM_011526618.1:c.904A>G | XP_011524920.1:p.Ser302Gly | |
| XM_011526619.1:c.904A>G | XP_011524921.1:p.Ser302Gly | |
| XM_011526620.1:c.904A>G | XP_011524922.1:p.Ser302Gly | |
| XM_011526621.1:c.904A>G | XP_011524923.1:p.Ser302Gly | |
| XM_011526622.1:c.904A>G | XP_011524924.1:p.Ser302Gly | |
| NM_001330511.1:c.832-209A>G | NP_001317440.1:n.832-209A>G | |
| XM_011526622.2:c.904A>G | XP_011524924.1:p.Ser302Gly | |
| XM_017026470.2:c.904A>G | XP_016881959.1:p.Ser302Gly | |
| XM_024451416.1:c.904A>G | XP_024307184.1:p.Ser302Gly | |
| XM_024451417.1:c.832-209A>G | XP_024307185.1:n.832-209A>G | |
| NM_001626.6:c.904A>G MANE Select | NP_001617.1:p.Ser302Gly | |
| NM_001243027.3:c.718A>G | NP_001229956.1:p.Ser240Gly | |
| NM_001243028.3:c.718A>G | NP_001229957.1:p.Ser240Gly |