Linked Data
ClinVar Variation Id:
2537892
ClinVar RCV Id:
RCV004311234
dbSNP Id:
rs1208062139
gnomAD v3:
1-77917642-T-C
gnomAD v4:
1-77917642-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77917642T>C , CM000663.2:g.77917642T>C | GRCh38 |
| NC_000001.10:g.78383327T>C , CM000663.1:g.78383327T>C | GRCh37 |
| NC_000001.9:g.78155915T>C | NCBI36 |
| NG_016625.1:g.34128T>C , LRG_442:g.34128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.104T>C MANE Select | ENSP00000333938.7:p.Phe35Ser | |
| ENST00000330010.12:c.28-318T>C | ENSP00000327363.8:n.28-318T>C | |
| ENST00000334785.11:c.104T>C | ENSP00000333938.7:p.Phe35Ser | |
| ENST00000401035.7:c.28-318T>C | ENSP00000383814.3:n.28-318T>C | |
| ENST00000440324.5:c.104T>C | ENSP00000411902.1:p.Phe35Ser | |
| NM_001172309.1:c.28-318T>C | NP_001165780.1:n.28-318T>C | |
| NM_144573.3:c.104T>C , LRG_442t1:c.104T>C | NP_653174.3:p.Phe35Ser | |
| XM_005271322.2:c.104T>C | XP_005271379.1:p.Phe35Ser | |
| XM_005271323.2:c.104T>C | XP_005271380.1:p.Phe35Ser | |
| XM_005271324.3:c.28-318T>C | XP_005271381.1:n.28-318T>C | |
| XM_005271325.2:c.104T>C | XP_005271382.1:p.Phe35Ser | |
| XM_005271326.2:c.28-318T>C | XP_005271383.1:n.28-318T>C | |
| XM_005271327.2:c.104T>C | XP_005271384.1:p.Phe35Ser | |
| XM_005271322.4:c.104T>C | XP_005271379.1:p.Phe35Ser | |
| XM_005271323.4:c.104T>C | XP_005271380.1:p.Phe35Ser | |
| XM_005271324.5:c.28-318T>C | XP_005271381.1:n.28-318T>C | |
| XM_005271325.4:c.104T>C | XP_005271382.1:p.Phe35Ser | |
| XM_005271326.4:c.28-318T>C | XP_005271383.1:n.28-318T>C | |
| XM_005271327.4:c.104T>C | XP_005271384.1:p.Phe35Ser | |
| NM_001172309.2:c.28-318T>C | NP_001165780.1:n.28-318T>C | |
| NM_144573.4:c.104T>C MANE Select | NP_653174.3:p.Phe35Ser |