Linked Data
ClinVar Variation Id:
36507
ClinVar RCV Id:
RCV000030179
RCV000222364
RCV000515335
RCV001197705
RCV002262586
RCV002251932
RCV002254152
RCV002415433
RCV002477026
dbSNP Id:
rs28940580
ExAC:
16:3293447 C / G
gnomAD v2:
16-3293447-C-G
gnomAD v3:
16-3243447-C-G
gnomAD v4:
16-3243447-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243447C>G , CM000678.2:g.3243447C>G | GRCh38 |
| NC_000016.9:g.3293447C>G , CM000678.1:g.3293447C>G | GRCh37 |
| NC_000016.8:g.3233448C>G | NCBI36 |
| NG_007871.1:g.18181G>C , LRG_190:g.18181G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1161G>C | ||
| ENST00000219596.6:c.2040G>C MANE Select | ENSP00000219596.1:p.Met680Ile | |
| ENST00000219596.5:c.2040G>C | ENSP00000219596.1:p.Met680Ile | |
| ENST00000339854.8:c.1500G>C | ENSP00000339639.4:p.Met500Ile | |
| ENST00000536379.5:c.1407G>C | ENSP00000445079.1:p.Met469Ile | |
| ENST00000536980.5:c.*316G>C | ENSP00000444178.1:n.*316G>C | |
| ENST00000537682.5:c.*316G>C | ENSP00000438611.1:n.*316G>C | |
| ENST00000538326.5:c.*665G>C | ENSP00000437486.1:n.*665G>C | |
| ENST00000539145.5:c.961G>C | ENSP00000444471.1:n.961G>C | |
| ENST00000541159.5:c.1582G>C | ENSP00000438711.1:n.1582G>C | |
| ENST00000542898.5:c.*316G>C | ENSP00000444615.1:n.*316G>C | |
| ENST00000570511.5:c.1445G>C | ENSP00000458312.1:n.1445G>C | |
| ENST00000572244.5:c.730G>C | ENSP00000461186.1:n.730G>C | |
| ENST00000574583.5:c.812G>C | ENSP00000460269.1:n.812G>C | |
| ENST00000576315.5:c.845G>C | ENSP00000460551.1:n.845G>C | |
| ENST00000621655.1:c.1577G>C | ENSP00000481436.1:n.1577G>C | |
| NM_000243.2:c.2040G>C , LRG_190t1:c.2040G>C | NP_000234.1:p.Met680Ile | |
| NM_001198536.1:c.*244G>C | NP_001185465.1:n.*244G>C | |
| XM_017023236.2:c.2037G>C | XP_016878725.1:p.Met679Ile | |
| NM_000243.3:c.2040G>C MANE Select | NP_000234.1:p.Met680Ile | |
| NM_001198536.2:c.*244G>C | NP_001185465.2:n.*244G>C |