Linked Data
ClinVar Variation Id:
241212
dbSNP Id:
rs148179279
ExAC:
5:177577955 T / C
gnomAD v2:
5-177577955-T-C
gnomAD v3:
5-178150954-T-C
gnomAD v4:
5-178150954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178150954T>C , CM000667.2:g.178150954T>C | GRCh38 |
| NC_000005.9:g.177577955T>C , CM000667.1:g.177577955T>C | GRCh37 |
| NC_000005.8:g.177510561T>C | NCBI36 |
| NG_011765.1:g.8007A>G , LRG_346:g.8007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314397.9:c.231-1116A>G | ENSP00000366276.2:n.231-1116A>G | |
| ENST00000697323.1:n.171A>G | ||
| ENST00000274606.8:c.270A>G MANE Select | ENSP00000274606.4:p.Val90= | |
| ENST00000274606.7:c.270A>G | ENSP00000274606.3:p.Val90= | |
| ENST00000314397.8:c.231-1116A>G | ENSP00000366276.2:n.231-1116A>G | |
| ENST00000502263.1:c.129A>G | ENSP00000431126.1:p.Val43= | |
| ENST00000511078.1:c.270A>G | ENSP00000423849.1:p.Val90= | |
| ENST00000514354.5:c.270A>G | ENSP00000423803.1:p.Val90= | |
| NM_001034833.1:c.231-1116A>G | NP_001030005.1:n.231-1116A>G | |
| NM_017838.3:c.270A>G , LRG_346t1:c.270A>G | NP_060308.1:p.Val90= | |
| NM_017838.4:c.270A>G MANE Select | NP_060308.1:p.Val90= | |
| NM_001034833.2:c.231-1116A>G | NP_001030005.1:n.231-1116A>G | |
| NM_001396110.1:c.270A>G | NP_001383039.1:p.Val90= |