Linked Data
ClinVar Variation Id:
319115
ClinVar RCV Id:
RCV000307645
dbSNP Id:
rs886051971
gnomAD v2:
16-3304417-C-G
gnomAD v3:
16-3254417-C-G
gnomAD v4:
16-3254417-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254417C>G , CM000678.2:g.3254417C>G | GRCh38 |
| NC_000016.9:g.3304417C>G , CM000678.1:g.3304417C>G | GRCh37 |
| NC_000016.8:g.3244418C>G | NCBI36 |
| NG_007871.1:g.7211G>C , LRG_190:g.7211G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.651G>C MANE Select | ENSP00000219596.1:p.Ala217= | |
| ENST00000219596.5:c.651G>C | ENSP00000219596.1:p.Ala217= | |
| ENST00000339854.8:c.277+1894G>C | ENSP00000339639.4:n.277+1894G>C | |
| ENST00000536379.5:c.277+1894G>C | ENSP00000445079.1:n.277+1894G>C | |
| ENST00000536980.5:c.277+1894G>C | ENSP00000444178.1:n.277+1894G>C | |
| ENST00000537682.5:c.651G>C | ENSP00000438611.1:p.Ala217= | |
| ENST00000538326.5:c.651G>C | ENSP00000437486.1:p.Ala217= | |
| ENST00000539145.5:c.277+1894G>C | ENSP00000444471.1:n.277+1894G>C | |
| ENST00000541159.5:c.277+1894G>C | ENSP00000438711.1:n.277+1894G>C | |
| ENST00000542898.5:c.651G>C | ENSP00000444615.1:p.Ala217= | |
| ENST00000570511.5:c.651G>C | ENSP00000458312.1:p.Ala217= | |
| ENST00000572244.5:c.277+1894G>C | ENSP00000461186.1:n.277+1894G>C | |
| ENST00000574583.5:c.277+1894G>C | ENSP00000460269.1:n.277+1894G>C | |
| ENST00000576315.5:c.277+1894G>C | ENSP00000460551.1:n.277+1894G>C | |
| ENST00000621655.1:c.277+1894G>C | ENSP00000481436.1:n.277+1894G>C | |
| NM_000243.2:c.651G>C , LRG_190t1:c.651G>C | NP_000234.1:p.Ala217= | |
| NM_001198536.1:c.277+1894G>C | NP_001185465.1:n.277+1894G>C | |
| XM_017023236.2:c.651G>C | XP_016878725.1:p.Ala217= | |
| XR_001751903.1:n.840G>C | ||
| NM_000243.3:c.651G>C MANE Select | NP_000234.1:p.Ala217= | |
| NM_001198536.2:c.277+1894G>C | NP_001185465.2:n.277+1894G>C |