Linked Data
ClinVar Variation Id:
1321574
dbSNP Id:
rs748264438
ExAC:
16:3293184 G / C
gnomAD v2:
16-3293184-G-C
gnomAD v3:
16-3243184-G-C
gnomAD v4:
16-3243184-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243184G>C , CM000678.2:g.3243184G>C | GRCh38 |
| NC_000016.9:g.3293184G>C , CM000678.1:g.3293184G>C | GRCh37 |
| NC_000016.8:g.3233185G>C | NCBI36 |
| NG_007871.1:g.18444C>G , LRG_190:g.18444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1424C>G | ||
| ENST00000219596.6:c.2303C>G MANE Select | ENSP00000219596.1:p.Ala768Gly | |
| ENST00000219596.5:c.2303C>G | ENSP00000219596.1:p.Ala768Gly | |
| ENST00000339854.8:c.1763C>G | ENSP00000339639.4:p.Ala588Gly | |
| ENST00000536379.5:c.1670C>G | ENSP00000445079.1:p.Ala557Gly | |
| ENST00000536980.5:c.*579C>G | ENSP00000444178.1:n.*579C>G | |
| ENST00000537682.5:c.*579C>G | ENSP00000438611.1:n.*579C>G | |
| ENST00000538326.5:c.*928C>G | ENSP00000437486.1:n.*928C>G | |
| ENST00000539145.5:c.1224C>G | ENSP00000444471.1:n.1224C>G | |
| ENST00000541159.5:c.1845C>G | ENSP00000438711.1:n.1845C>G | |
| ENST00000542898.5:c.*579C>G | ENSP00000444615.1:n.*579C>G | |
| ENST00000570511.5:c.1708C>G | ENSP00000458312.1:n.1708C>G | |
| ENST00000572244.5:c.993C>G | ENSP00000461186.1:n.993C>G | |
| ENST00000574583.5:c.1075C>G | ENSP00000460269.1:n.1075C>G | |
| ENST00000576315.5:c.1108C>G | ENSP00000460551.1:n.1108C>G | |
| ENST00000621655.1:c.1840C>G | ENSP00000481436.1:n.1840C>G | |
| NM_000243.2:c.2303C>G , LRG_190t1:c.2303C>G | NP_000234.1:p.Ala768Gly | |
| NM_001198536.1:c.*507C>G | NP_001185465.1:n.*507C>G | |
| XM_017023236.2:c.2300C>G | XP_016878725.1:p.Ala767Gly | |
| NM_000243.3:c.2303C>G MANE Select | NP_000234.1:p.Ala768Gly | |
| NM_001198536.2:c.*507C>G | NP_001185465.2:n.*507C>G |