Linked Data
ClinVar Variation Id:
1454737
ClinVar RCV Id:
RCV001942024
dbSNP Id:
rs2105706833
gnomAD v4:
2-171434637-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171434637C>A , CM000664.2:g.171434637C>A | GRCh38 |
| NC_000002.11:g.172291147C>A , CM000664.1:g.172291147C>A | GRCh37 |
| NC_000002.10:g.171999393C>A | NCBI36 |
| NG_013038.1:g.5387C>A | |
| NG_013038.2:g.5387C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612742.5:c.-13+37G>T (METTL8) | ENSP00000480056.1:n.-13+37G>T | |
| ENST00000375255.8:c.60C>A (DCAF17) MANE Select | ENSP00000364404.3:p.Cys20Ter | |
| ENST00000375255.7:c.60C>A (DCAF17) | ENSP00000364404.3:p.Cys20Ter | |
| ENST00000442778.5:c.-13+37G>T (METTL8) | ENSP00000404646.1:n.-13+37G>T | |
| ENST00000453846.5:c.-137+37G>T (METTL8) | ENSP00000411589.1:n.-137+37G>T | |
| ENST00000460188.5:n.115+37G>T (METTL8) | ||
| ENST00000462821.1:n.129+37G>T (METTL8) | ||
| ENST00000468592.5:n.54+367C>A (DCAF17) | ||
| ENST00000539783.5:c.60C>A (DCAF17) | ENSP00000442238.1:p.Cys20Ter | |
| ENST00000612742.4:c.-13+37G>T (METTL8) | ENSP00000480056.1:n.-13+37G>T | |
| NM_001164821.1:c.60C>A (DCAF17) | NP_001158293.1:p.Cys20Ter | |
| NM_024770.3:c.-13+37G>T (METTL8) | NP_079046.2:n.-13+37G>T | |
| NM_025000.3:c.60C>A (DCAF17) | NP_079276.2:p.Cys20Ter | |
| NR_028482.1:n.387C>A (DCAF17) | ||
| XM_006712762.2:c.8+37G>T (METTL8) | XP_006712825.1:n.8+37G>T | |
| XM_006712764.2:c.8+37G>T (METTL8) | XP_006712827.1:n.8+37G>T | |
| XM_006712766.2:c.60C>A (DCAF17) | XP_006712829.1:p.Cys20Ter | |
| XM_006712767.1:c.-136+367C>A (DCAF17) | XP_006712830.1:n.-136+367C>A | |
| XM_006712772.2:c.60C>A (DCAF17) | XP_006712835.1:p.Cys20Ter | |
| XM_011511875.1:c.8+37G>T (METTL8) | XP_011510177.1:n.8+37G>T | |
| XM_011511881.1:c.60C>A (DCAF17) | XP_011510183.1:p.Cys20Ter | |
| XM_011511882.1:c.60C>A (DCAF17) | XP_011510184.1:p.Cys20Ter | |
| XM_011511883.1:c.60C>A (DCAF17) | XP_011510185.1:p.Cys20Ter | |
| XM_011511884.1:c.60C>A (DCAF17) | XP_011510186.1:p.Cys20Ter | |
| XM_011511885.1:c.60C>A (DCAF17) | XP_011510187.1:p.Cys20Ter | |
| XR_427113.2:n.382C>A (DCAF17) | ||
| XR_923027.1:n.30+37G>T (METTL8) | ||
| XR_923028.1:n.30+37G>T (METTL8) | ||
| XR_923029.1:n.382C>A (DCAF17) | ||
| XR_923030.1:n.382C>A (DCAF17) | ||
| NM_001321157.1:c.8+37G>T (METTL8) | NP_001308086.1:n.8+37G>T | |
| NM_001321158.1:c.8+37G>T (METTL8) | NP_001308087.1:n.8+37G>T | |
| NM_001321161.1:c.8+37G>T (METTL8) | NP_001308090.1:n.8+37G>T | |
| NM_024770.4:c.-13+37G>T (METTL8) | NP_079046.2:n.-13+37G>T | |
| NR_135568.1:n.130+37G>T (METTL8) | ||
| XM_011511875.3:c.8+37G>T (METTL8) | XP_011510177.1:n.8+37G>T | |
| XM_017004984.2:c.8+37G>T (METTL8) | XP_016860473.1:n.8+37G>T | |
| XM_017004986.2:c.-13+37G>T (METTL8) | XP_016860475.1:n.-13+37G>T | |
| XM_017004987.2:c.8+37G>T (METTL8) | XP_016860476.1:n.8+37G>T | |
| XM_017004995.1:c.60C>A (DCAF17) | XP_016860484.1:p.Cys20Ter | |
| XM_017004996.1:c.60C>A (DCAF17) | XP_016860485.1:p.Cys20Ter | |
| XM_017004997.1:c.60C>A (DCAF17) | XP_016860486.1:p.Cys20Ter | |
| XM_017004998.1:c.-905+367C>A (DCAF17) | XP_016860487.1:n.-905+367C>A | |
| XM_017004999.1:c.60C>A (DCAF17) | XP_016860488.1:p.Cys20Ter | |
| XM_017005000.1:c.60C>A (DCAF17) | XP_016860489.1:p.Cys20Ter | |
| XM_017005001.2:c.60C>A (DCAF17) | XP_016860490.1:p.Cys20Ter | |
| XM_017005002.1:c.-671+367C>A (DCAF17) | XP_016860491.1:n.-671+367C>A | |
| XR_001738955.1:n.107+37G>T (METTL8) | ||
| XR_001738961.1:n.382C>A (DCAF17) | ||
| XR_002959340.1:n.108+37G>T (METTL8) | ||
| XR_002959341.1:n.108+37G>T (METTL8) | ||
| XR_923027.3:n.107+37G>T (METTL8) | ||
| XR_923028.3:n.107+37G>T (METTL8) | ||
| NM_025000.4:c.60C>A (DCAF17) MANE Select | NP_079276.2:p.Cys20Ter | |
| NM_001321157.2:c.8+37G>T (METTL8) | NP_001308086.1:n.8+37G>T | |
| NM_001321158.2:c.8+37G>T (METTL8) | NP_001308087.1:n.8+37G>T | |
| NM_001321161.2:c.8+37G>T (METTL8) | NP_001308090.1:n.8+37G>T | |
| NR_028482.2:n.412C>A (DCAF17) | ||
| NR_135568.2:n.99+37G>T (METTL8) | ||
| NM_001164821.2:c.60C>A (DCAF17) | NP_001158293.1:p.Cys20Ter | |
| NM_024770.5:c.-13+37G>T (METTL8) | NP_079046.2:n.-13+37G>T |