Linked Data
ClinVar Variation Id:
2548
ClinVar RCV Id:
RCV000002657
RCV000213702
RCV000768020
RCV000999738
RCV001535864
RCV001770031
RCV002415388
RCV002262547
RCV004532274
dbSNP Id:
rs61732874
ExAC:
16:3293257 C / A
gnomAD v2:
16-3293257-C-A
gnomAD v3:
16-3243257-C-A
gnomAD v4:
16-3243257-C-A
PubMed:
PMID:9668175
PMID:10090880
PMID:14578331
PMID:15024744
PMID:16439335
PMID:17566872
PMID:19863562
PMID:19934083
PMID:20041150
PMID:20165923
PMID:20301405
PMID:20534143
PMID:20645115
PMID:21246368
PMID:21598806
PMID:22019805
PMID:22614345
PMID:22903357
PMID:23716950
PMID:23907647
PMID:25648235
PMID:26843738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243257C>A , CM000678.2:g.3243257C>A | GRCh38 |
| NC_000016.9:g.3293257C>A , CM000678.1:g.3293257C>A | GRCh37 |
| NC_000016.8:g.3233258C>A | NCBI36 |
| NG_007871.1:g.18371G>T , LRG_190:g.18371G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1351G>T | ||
| ENST00000219596.6:c.2230G>T MANE Select | ENSP00000219596.1:p.Ala744Ser | |
| ENST00000219596.5:c.2230G>T | ENSP00000219596.1:p.Ala744Ser | |
| ENST00000339854.8:c.1690G>T | ENSP00000339639.4:p.Ala564Ser | |
| ENST00000536379.5:c.1597G>T | ENSP00000445079.1:p.Ala533Ser | |
| ENST00000536980.5:c.*506G>T | ENSP00000444178.1:n.*506G>T | |
| ENST00000537682.5:c.*506G>T | ENSP00000438611.1:n.*506G>T | |
| ENST00000538326.5:c.*855G>T | ENSP00000437486.1:n.*855G>T | |
| ENST00000539145.5:c.1151G>T | ENSP00000444471.1:n.1151G>T | |
| ENST00000541159.5:c.1772G>T | ENSP00000438711.1:n.1772G>T | |
| ENST00000542898.5:c.*506G>T | ENSP00000444615.1:n.*506G>T | |
| ENST00000570511.5:c.1635G>T | ENSP00000458312.1:n.1635G>T | |
| ENST00000572244.5:c.920G>T | ENSP00000461186.1:n.920G>T | |
| ENST00000574583.5:c.1002G>T | ENSP00000460269.1:n.1002G>T | |
| ENST00000576315.5:c.1035G>T | ENSP00000460551.1:n.1035G>T | |
| ENST00000621655.1:c.1767G>T | ENSP00000481436.1:n.1767G>T | |
| NM_000243.2:c.2230G>T , LRG_190t1:c.2230G>T | NP_000234.1:p.Ala744Ser | |
| NM_001198536.1:c.*434G>T | NP_001185465.1:n.*434G>T | |
| XM_017023236.2:c.2227G>T | XP_016878725.1:p.Ala743Ser | |
| NM_000243.3:c.2230G>T MANE Select | NP_000234.1:p.Ala744Ser | |
| NM_001198536.2:c.*434G>T | NP_001185465.2:n.*434G>T |