Linked Data
ClinVar Variation Id:
138012
ClinVar RCV Id:
RCV000126447
RCV000180989
RCV000226452
RCV000291516
RCV000327774
RCV000331279
RCV000382303
RCV000617278
RCV001842431
RCV001094022
RCV004544261
dbSNP Id:
rs148121889
ExAC:
11:2549230 G / A
gnomAD v2:
11-2549230-G-A
gnomAD v3:
11-2528000-G-A
gnomAD v4:
11-2528000-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2528000G>A , CM000673.2:g.2528000G>A | GRCh38 |
| NC_000011.9:g.2549230G>A , CM000673.1:g.2549230G>A | GRCh37 |
| NC_000011.8:g.2505806G>A | NCBI36 |
| NG_008935.1:g.88010G>A , LRG_287:g.88010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.198G>A | ENSP00000434560.2:p.Thr66= | |
| ENST00000646564.2:c.459G>A | ENSP00000495806.2:p.Thr153= | |
| ENST00000155840.12:c.459G>A MANE Select | ENSP00000155840.2:p.Thr153= | |
| ENST00000335475.6:c.78G>A | ENSP00000334497.5:p.Thr26= | |
| ENST00000646564.1:c.105G>A | ENSP00000495806.1:p.Thr35= | |
| ENST00000155840.9:c.459G>A | ENSP00000155840.2:p.Thr153= | |
| ENST00000335475.5:c.78G>A | ENSP00000334497.5:p.Thr26= | |
| ENST00000496887.6:c.198G>A | ENSP00000434560.1:p.Thr66= | |
| NM_000218.2:c.459G>A , LRG_287t1:c.459G>A | NP_000209.2:p.Thr153= | |
| NM_181798.1:c.78G>A , LRG_287t2:c.78G>A | NP_861463.1:p.Thr26= | |
| NM_000218.3:c.459G>A MANE Select | NP_000209.2:p.Thr153= |