Linked Data
ClinVar Variation Id:
434695
dbSNP Id:
rs61751594
ExAC:
4:104066273 T / G
gnomAD v2:
4-104066273-T-G
gnomAD v3:
4-103145116-T-G
gnomAD v4:
4-103145116-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103145116T>G , CM000666.2:g.103145116T>G | GRCh38 |
| NC_000004.11:g.104066273T>G , CM000666.1:g.104066273T>G | GRCh37 |
| NC_000004.10:g.104285722T>G | NCBI36 |
| NG_041798.1:g.58294A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.4791A>C MANE Select | ENSP00000265148.3:p.Arg1597Ser | |
| ENST00000380026.8:c.4716A>C | ENSP00000369365.3:p.Arg1572Ser | |
| ENST00000265148.7:c.4791A>C | ENSP00000265148.3:p.Arg1597Ser | |
| ENST00000380026.7:c.4716A>C | ENSP00000369365.3:p.Arg1572Ser | |
| ENST00000611174.4:c.4791A>C | ENSP00000483542.1:p.Arg1597Ser | |
| NM_001286734.1:c.4716A>C | NP_001273663.1:p.Arg1572Ser | |
| NM_001813.2:c.4791A>C | NP_001804.2:p.Arg1597Ser | |
| XM_011531544.1:c.4716A>C | XP_011529846.1:p.Arg1572Ser | |
| XM_011531545.1:c.4791A>C | XP_011529847.1:p.Arg1597Ser | |
| XM_011531546.1:c.4587A>C | XP_011529848.1:p.Arg1529Ser | |
| XM_011531547.1:c.4791A>C | XP_011529849.1:p.Arg1597Ser | |
| XM_011531548.1:c.4791A>C | XP_011529850.1:p.Arg1597Ser | |
| XM_011531549.1:c.4414-498A>C | XP_011529851.1:n.4414-498A>C | |
| XM_011531544.2:c.4716A>C | XP_011529846.1:p.Arg1572Ser | |
| XM_011531545.2:c.4791A>C | XP_011529847.1:p.Arg1597Ser | |
| XM_011531546.3:c.4587A>C | XP_011529848.1:p.Arg1529Ser | |
| XM_011531547.2:c.4791A>C | XP_011529849.1:p.Arg1597Ser | |
| XM_011531548.2:c.4791A>C | XP_011529850.1:p.Arg1597Ser | |
| XM_011531549.2:c.4414-498A>C | XP_011529851.1:n.4414-498A>C | |
| XM_017007659.1:c.4791A>C | XP_016863148.1:p.Arg1597Ser | |
| NM_001286734.2:c.4716A>C | NP_001273663.1:p.Arg1572Ser | |
| NM_001813.3:c.4791A>C MANE Select | NP_001804.2:p.Arg1597Ser |