Linked Data
ClinVar Variation Id:
240622
dbSNP Id:
rs148788180
ExAC:
12:133201324 G / C
gnomAD v2:
12-133201324-G-C
gnomAD v3:
12-132624738-G-C
gnomAD v4:
12-132624738-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132624738G>C , CM000674.2:g.132624738G>C | GRCh38 |
| NC_000012.11:g.133201324G>C , CM000674.1:g.133201324G>C | GRCh37 |
| NC_000012.10:g.131711397G>C | NCBI36 |
| NG_033840.1:g.67787C>G , LRG_789:g.67787C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434528.5:c.2358C>G | ENSP00000500921.1:n.2358C>G | |
| ENST00000544870.6:c.4473C>G | ENSP00000479927.2:n.4473C>G | |
| ENST00000699981.1:n.4474C>G | ||
| ENST00000699982.1:c.6674C>G | ||
| ENST00000699983.1:c.7378C>G | ||
| ENST00000699984.1:c.6606C>G | ||
| ENST00000320574.10:c.6820C>G MANE Select | ENSP00000322570.5:p.Leu2274Val | |
| ENST00000434528.4:c.2358C>G | ENSP00000500921.1:n.2358C>G | |
| ENST00000672002.1:c.4493C>G | ENSP00000500233.1:n.4493C>G | |
| ENST00000672742.1:c.*7026C>G | ENSP00000500279.1:n.*7026C>G | |
| ENST00000320574.9:c.6820C>G | ENSP00000322570.5:p.Leu2274Val | |
| ENST00000534922.5:n.1477C>G | ||
| ENST00000535270.5:c.6739C>G | ENSP00000445753.1:p.Leu2247Val | |
| ENST00000537064.5:c.*6571C>G | ENSP00000442578.1:n.*6571C>G | |
| ENST00000541627.2:n.1120C>G | ||
| ENST00000544692.5:n.2189C>G | ||
| NM_006231.3:c.6820C>G , LRG_789t1:c.6820C>G | NP_006222.2:p.Leu2274Val | |
| XR_002957339.1:n.7712C>G | ||
| NM_006231.4:c.6820C>G MANE Select | NP_006222.2:p.Leu2274Val |