Linked Data
ClinVar Variation Id:
2549
dbSNP Id:
rs104895097
ExAC:
16:3293205 C / T
gnomAD v2:
16-3293205-C-T
gnomAD v3:
16-3243205-C-T
gnomAD v4:
16-3243205-C-T
PubMed:
PMID:9668175
PMID:10090880
PMID:10364520
PMID:10612841
PMID:15951859
PMID:16378925
PMID:17566872
PMID:19449169
PMID:19863562
PMID:20301405
PMID:20485448
PMID:21598806
PMID:23891399
PMID:23907647
PMID:24071932
PMID:24301775
PMID:25393764
PMID:25648235
PMID:27621632
PMID:27659338
PMID:27980538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243205C>T , CM000678.2:g.3243205C>T | GRCh38 |
| NC_000016.9:g.3293205C>T , CM000678.1:g.3293205C>T | GRCh37 |
| NC_000016.8:g.3233206C>T | NCBI36 |
| NG_007871.1:g.18423G>A , LRG_190:g.18423G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1403G>A | ||
| ENST00000219596.6:c.2282G>A MANE Select | ENSP00000219596.1:p.Arg761His | |
| ENST00000219596.5:c.2282G>A | ENSP00000219596.1:p.Arg761His | |
| ENST00000339854.8:c.1742G>A | ENSP00000339639.4:p.Arg581His | |
| ENST00000536379.5:c.1649G>A | ENSP00000445079.1:p.Arg550His | |
| ENST00000536980.5:c.*558G>A | ENSP00000444178.1:n.*558G>A | |
| ENST00000537682.5:c.*558G>A | ENSP00000438611.1:n.*558G>A | |
| ENST00000538326.5:c.*907G>A | ENSP00000437486.1:n.*907G>A | |
| ENST00000539145.5:c.1203G>A | ENSP00000444471.1:n.1203G>A | |
| ENST00000541159.5:c.1824G>A | ENSP00000438711.1:n.1824G>A | |
| ENST00000542898.5:c.*558G>A | ENSP00000444615.1:n.*558G>A | |
| ENST00000570511.5:c.1687G>A | ENSP00000458312.1:n.1687G>A | |
| ENST00000572244.5:c.972G>A | ENSP00000461186.1:n.972G>A | |
| ENST00000574583.5:c.1054G>A | ENSP00000460269.1:n.1054G>A | |
| ENST00000576315.5:c.1087G>A | ENSP00000460551.1:n.1087G>A | |
| ENST00000621655.1:c.1819G>A | ENSP00000481436.1:n.1819G>A | |
| NM_000243.2:c.2282G>A , LRG_190t1:c.2282G>A | NP_000234.1:p.Arg761His | |
| NM_001198536.1:c.*486G>A | NP_001185465.1:n.*486G>A | |
| XM_017023236.2:c.2279G>A | XP_016878725.1:p.Arg760His | |
| NM_000243.3:c.2282G>A MANE Select | NP_000234.1:p.Arg761His | |
| NM_001198536.2:c.*486G>A | NP_001185465.2:n.*486G>A |