Linked Data
ClinVar Variation Id:
295060
dbSNP Id:
rs147931502
ExAC:
1:209788656 T / C
gnomAD v2:
1-209788656-T-C
gnomAD v3:
1-209615311-T-C
gnomAD v4:
1-209615311-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209615311T>C , CM000663.2:g.209615311T>C | GRCh38 |
| NC_000001.10:g.209788656T>C , CM000663.1:g.209788656T>C | GRCh37 |
| NC_000001.9:g.207855279T>C | NCBI36 |
| NG_007116.1:g.42165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.3479A>G MANE Select | ENSP00000348384.3:p.His1160Arg | |
| ENST00000356082.8:c.3479A>G | ENSP00000348384.3:p.His1160Arg | |
| ENST00000367030.7:c.3479A>G | ENSP00000355997.3:p.His1160Arg | |
| ENST00000391911.5:c.3479A>G | ENSP00000375778.1:p.His1160Arg | |
| NM_000228.2:c.3479A>G | NP_000219.2:p.His1160Arg | |
| NM_001017402.1:c.3479A>G | NP_001017402.1:p.His1160Arg | |
| NM_001127641.1:c.3479A>G | NP_001121113.1:p.His1160Arg | |
| XM_005273124.3:c.3479A>G | XP_005273181.1:p.His1160Arg | |
| XM_005273124.4:c.3479A>G | XP_005273181.1:p.His1160Arg | |
| XM_017001272.2:c.3287A>G | XP_016856761.1:p.His1096Arg | |
| NM_000228.3:c.3479A>G MANE Select | NP_000219.2:p.His1160Arg | |
| NM_001017402.2:c.3479A>G | NP_001017402.1:p.His1160Arg |