Linked Data
dbSNP Id:
rs747720547
ExAC:
15:90631712 G / C
gnomAD v2:
15-90631712-G-C
gnomAD v4:
15-90088480-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088480G>C , CM000677.2:g.90088480G>C | GRCh38 |
| NC_000015.9:g.90631712G>C , CM000677.1:g.90631712G>C | GRCh37 |
| NC_000015.8:g.88432716G>C | NCBI36 |
| NG_023302.1:g.18997C>G , LRG_611:g.18997C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.557C>G MANE Select | ENSP00000331897.4:p.Ala186Gly | |
| ENST00000330062.7:c.557C>G | ENSP00000331897.3:p.Ala186Gly | |
| ENST00000540499.2:c.401C>G | ENSP00000446147.2:p.Ala134Gly | |
| ENST00000559482.5:c.230C>G | ENSP00000453016.1:p.Ala77Gly | |
| ENST00000560061.1:c.*182C>G | ENSP00000453254.1:n.*182C>G | |
| NM_001289910.1:c.401C>G , LRG_611t1:c.401C>G | NP_001276839.1:p.Ala134Gly | |
| NM_001290114.1:c.167C>G | NP_001277043.1:p.Ala56Gly | |
| NM_002168.3:c.557C>G , LRG_611t2:c.557C>G | NP_002159.2:p.Ala186Gly | |
| NM_001290114.2:c.167C>G | NP_001277043.1:p.Ala56Gly | |
| NM_002168.4:c.557C>G MANE Select | NP_002159.2:p.Ala186Gly |