Linked Data
ClinVar Variation Id:
293310
ClinVar RCV Id:
RCV000300540
RCV000313368
RCV000354081
RCV000395380
RCV001093774
RCV003221890
RCV004543158
dbSNP Id:
rs150182811
gnomAD v2:
1-161275471-C-A
gnomAD v3:
1-161305681-C-A
gnomAD v4:
1-161305681-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161305681C>A , CM000663.2:g.161305681C>A | GRCh38 |
| NC_000001.10:g.161275471C>A , CM000663.1:g.161275471C>A | GRCh37 |
| NC_000001.9:g.159542095C>A | NCBI36 |
| NG_008055.1:g.9292G>T , LRG_256:g.9292G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.*195G>T | ENSP00000488104.2:n.*195G>T | |
| ENST00000533357.5:c.*195G>T MANE Select | ENSP00000432943.1:n.*195G>T | |
| ENST00000672287.2:c.*195G>T | ENSP00000499818.2:n.*195G>T | |
| ENST00000672602.2:c.*3G>T | ENSP00000500814.2:n.*3G>T | |
| ENST00000674861.1:n.1005G>T | ||
| ENST00000463290.5:c.*195G>T | ENSP00000431538.1:n.*195G>T | |
| ENST00000476410.1:n.532G>T | ||
| ENST00000491222.5:c.*195G>T | ENSP00000431441.1:n.*195G>T | |
| ENST00000526189.2:c.605G>T | ||
| ENST00000533357.4:c.*195G>T | ENSP00000432943.1:n.*195G>T | |
| NM_000530.6:c.*195G>T , LRG_256t1:c.*195G>T | NP_000521.2:n.*195G>T | |
| NM_000530.7:c.*195G>T | NP_000521.2:n.*195G>T | |
| NM_001315491.1:c.*3G>T | NP_001302420.1:n.*3G>T | |
| XM_017001321.2:c.675+427G>T | XP_016856810.1:n.675+427G>T | |
| NM_000530.8:c.*195G>T MANE Select | NP_000521.2:n.*195G>T | |
| NM_001315491.2:c.*3G>T | NP_001302420.1:n.*3G>T |