Linked Data
dbSNP Id:
rs529416664
ExAC:
15:90631962 T / C
gnomAD v2:
15-90631962-T-C
gnomAD v3:
15-90088730-T-C
gnomAD v4:
15-90088730-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088730T>C , CM000677.2:g.90088730T>C | GRCh38 |
| NC_000015.9:g.90631962T>C , CM000677.1:g.90631962T>C | GRCh37 |
| NC_000015.8:g.88432966T>C | NCBI36 |
| NG_023302.1:g.18747A>G , LRG_611:g.18747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.391A>G MANE Select | ENSP00000331897.4:p.Met131Val | |
| ENST00000330062.7:c.391A>G | ENSP00000331897.3:p.Met131Val | |
| ENST00000540499.2:c.235A>G | ENSP00000446147.2:p.Met79Val | |
| ENST00000559482.5:c.208-228A>G | ENSP00000453016.1:n.208-228A>G | |
| ENST00000560061.1:c.*16A>G | ENSP00000453254.1:n.*16A>G | |
| NM_001289910.1:c.235A>G , LRG_611t1:c.235A>G | NP_001276839.1:p.Met79Val | |
| NM_001290114.1:c.1A>G | NP_001277043.1:p.Met1Val | |
| NM_002168.3:c.391A>G , LRG_611t2:c.391A>G | NP_002159.2:p.Met131Val | |
| NM_001290114.2:c.1A>G | NP_001277043.1:p.Met1Val | |
| NM_002168.4:c.391A>G MANE Select | NP_002159.2:p.Met131Val |