Linked Data
dbSNP Id:
rs941112960
gnomAD v3:
17-64350418-A-G
gnomAD v4:
17-64350418-A-G
MyVariant Identifiers:
chr17:g.64350418A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64350418A>G , CM000679.2:g.64350418A>G | GRCh38 |
| NC_000017.9:g.59781523A>G | NCBI36 |
| NG_047009.1:g.68384T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563924.6:c.2006T>C MANE Select | ENSP00000457421.1:p.Val669Ala | |
| ENST00000563924.5:c.2006T>C | ENSP00000457421.1:p.Val669Ala | |
| NM_000442.4:c.2006T>C | NP_000433.4:p.Val669Ala | |
| XM_005276880.1:c.2006T>C | XP_005276937.1:p.Val669Ala | |
| XM_005276881.1:c.2006T>C | XP_005276938.1:p.Val669Ala | |
| XM_005276882.1:c.2006T>C | XP_005276939.1:p.Val669Ala | |
| XM_005276883.1:c.2006T>C | XP_005276940.1:p.Val669Ala | |
| XM_011524889.1:c.2006T>C | XP_011523191.1:p.Val669Ala | |
| XM_011524890.1:c.2006T>C | XP_011523192.1:p.Val669Ala | |
| XM_005276883.2:c.2006T>C | XP_005276940.1:p.Val669Ala | |
| XM_011524889.2:c.2006T>C | XP_011523191.1:p.Val669Ala | |
| XM_017024738.1:c.2006T>C | XP_016880227.1:p.Val669Ala | |
| XM_017024739.1:c.1990+1972T>C | XP_016880228.1:n.1990+1972T>C | |
| XM_017024740.1:c.2006T>C | XP_016880229.1:p.Val669Ala | |
| XM_017024741.1:c.1990+1972T>C | XP_016880230.1:n.1990+1972T>C | |
| NM_000442.5:c.2006T>C MANE Select | NP_000433.4:p.Val669Ala |