Linked Data
dbSNP Id:
rs1041952668
gnomAD v2:
16-67470802-C-G
gnomAD v3:
16-67436899-C-G
gnomAD v4:
16-67436899-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436899C>G , CM000678.2:g.67436899C>G | GRCh38 |
| NC_000016.9:g.67470802C>G , CM000678.1:g.67470802C>G | GRCh37 |
| NC_000016.8:g.66028303C>G | NCBI36 |
| NG_011482.1:g.49288G>C | |
| NG_016549.1:g.10767C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.1114C>G MANE Select | ENSP00000316786.5:p.Leu372Val | |
| ENST00000326152.5:c.1114C>G | ENSP00000316786.5:p.Leu372Val | |
| NM_000196.3:c.1114C>G | NP_000187.3:p.Leu372Val | |
| NM_000196.4:c.1114C>G MANE Select | NP_000187.3:p.Leu372Val |