Linked Data
ClinVar Variation Id:
762345
ClinVar RCV Id:
RCV000940481
dbSNP Id:
rs755920648
ExAC:
4:104074360 T / C
gnomAD v2:
4-104074360-T-C
gnomAD v3:
4-103153203-T-C
gnomAD v4:
4-103153203-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103153203T>C , CM000666.2:g.103153203T>C | GRCh38 |
| NC_000004.11:g.104074360T>C , CM000666.1:g.104074360T>C | GRCh37 |
| NC_000004.10:g.104293809T>C | NCBI36 |
| NG_041798.1:g.50207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.3081A>G MANE Select | ENSP00000265148.3:p.Gln1027= | |
| ENST00000380026.8:c.3006A>G | ENSP00000369365.3:p.Gln1002= | |
| ENST00000265148.7:c.3081A>G | ENSP00000265148.3:p.Gln1027= | |
| ENST00000380026.7:c.3006A>G | ENSP00000369365.3:p.Gln1002= | |
| ENST00000503705.5:c.3081A>G | ENSP00000423981.1:p.Gln1027= | |
| ENST00000611174.4:c.3081A>G | ENSP00000483542.1:p.Gln1027= | |
| NM_001286734.1:c.3006A>G | NP_001273663.1:p.Gln1002= | |
| NM_001813.2:c.3081A>G | NP_001804.2:p.Gln1027= | |
| XM_011531544.1:c.3006A>G | XP_011529846.1:p.Gln1002= | |
| XM_011531545.1:c.3081A>G | XP_011529847.1:p.Gln1027= | |
| XM_011531546.1:c.3034-1826A>G | XP_011529848.1:n.3034-1826A>G | |
| XM_011531547.1:c.3081A>G | XP_011529849.1:p.Gln1027= | |
| XM_011531548.1:c.3081A>G | XP_011529850.1:p.Gln1027= | |
| XM_011531549.1:c.3081A>G | XP_011529851.1:p.Gln1027= | |
| XM_011531544.2:c.3006A>G | XP_011529846.1:p.Gln1002= | |
| XM_011531545.2:c.3081A>G | XP_011529847.1:p.Gln1027= | |
| XM_011531546.3:c.3034-1826A>G | XP_011529848.1:n.3034-1826A>G | |
| XM_011531547.2:c.3081A>G | XP_011529849.1:p.Gln1027= | |
| XM_011531548.2:c.3081A>G | XP_011529850.1:p.Gln1027= | |
| XM_011531549.2:c.3081A>G | XP_011529851.1:p.Gln1027= | |
| XM_017007659.1:c.3081A>G | XP_016863148.1:p.Gln1027= | |
| NM_001286734.2:c.3006A>G | NP_001273663.1:p.Gln1002= | |
| NM_001813.3:c.3081A>G MANE Select | NP_001804.2:p.Gln1027= |