Linked Data
ClinVar Variation Id:
6301
ClinVar RCV Id:
RCV000006681
dbSNP Id:
rs121908655
gnomAD v4:
18-62358328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62358328A>G , CM000680.2:g.62358328A>G | GRCh38 |
| NC_000018.9:g.60025561A>G , CM000680.1:g.60025561A>G | GRCh37 |
| NC_000018.8:g.58176541A>G | NCBI36 |
| NG_008098.1:g.38014A>G , LRG_194:g.38014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586569.3:c.508A>G MANE Select | ENSP00000465500.1:p.Arg170Gly | |
| ENST00000639222.1:c.508A>G | ENSP00000492422.1:p.Arg170Gly | |
| ENST00000269485.11:c.508A>G | ENSP00000269485.7:p.Arg170Gly | |
| ENST00000586569.2:c.508A>G | ENSP00000465500.1:p.Arg170Gly | |
| ENST00000587697.1:n.426A>G | ||
| ENST00000616710.4:c.508A>G | ENSP00000479567.1:p.Arg170Gly | |
| ENST00000617039.4:c.508A>G | ENSP00000482466.1:p.Arg170Gly | |
| NM_001270949.1:c.508A>G | NP_001257878.1:p.Arg170Gly | |
| NM_001270950.1:c.508A>G | NP_001257879.1:p.Arg170Gly | |
| NM_001270951.1:c.508A>G | NP_001257880.1:p.Arg170Gly | |
| NM_001278268.1:c.466A>G | NP_001265197.1:p.Arg156Gly | |
| NM_003839.3:c.508A>G | NP_003830.1:p.Arg170Gly | |
| XM_011526244.1:c.523A>G | XP_011524546.1:p.Arg175Gly | |
| XM_011526245.1:c.400A>G | XP_011524547.1:p.Arg134Gly | |
| XR_935263.1:n.538A>G | ||
| XM_011526244.2:c.523A>G | XP_011524546.1:p.Arg175Gly | |
| XM_011526245.2:c.400A>G | XP_011524547.1:p.Arg134Gly | |
| XM_017026064.1:c.400A>G | XP_016881553.1:p.Arg134Gly | |
| XM_017026065.1:c.358A>G | XP_016881554.1:p.Arg120Gly | |
| XM_017026066.1:c.298A>G | XP_016881555.1:p.Arg100Gly | |
| NM_003839.4:c.508A>G MANE Select | NP_003830.1:p.Arg170Gly | |
| NM_001270951.2:c.508A>G | NP_001257880.1:p.Arg170Gly | |
| NM_001278268.2:c.466A>G | NP_001265197.1:p.Arg156Gly | |
| NM_001270949.2:c.508A>G | NP_001257878.1:p.Arg170Gly | |
| NM_001270950.2:c.508A>G | NP_001257879.1:p.Arg170Gly |