Linked Data
dbSNP Id:
rs1650713514
gnomAD v4:
1-77935864-T-C
MyVariant Identifiers:
chr1:g.78401549T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935864T>C , CM000663.2:g.77935864T>C | GRCh38 |
| NC_000001.10:g.78401549T>C , CM000663.1:g.78401549T>C | GRCh37 |
| NC_000001.9:g.78174137T>C | NCBI36 |
| NG_016625.1:g.52350T>C , LRG_442:g.52350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1293T>C MANE Select | ENSP00000333938.7:p.Tyr431= | |
| ENST00000330010.12:c.1101T>C | ENSP00000327363.8:p.Tyr367= | |
| ENST00000334785.11:c.1293T>C | ENSP00000333938.7:p.Tyr431= | |
| ENST00000342754.5:c.992T>C | ||
| ENST00000440324.5:c.1251T>C | ENSP00000411902.1:p.Tyr417= | |
| ENST00000464998.1:n.753T>C | ||
| ENST00000480732.2:n.867T>C | ||
| NM_001172309.1:c.1101T>C | NP_001165780.1:p.Tyr367= | |
| NM_144573.3:c.1293T>C , LRG_442t1:c.1293T>C | NP_653174.3:p.Tyr431= | |
| XM_005271322.2:c.1293T>C | XP_005271379.1:p.Tyr431= | |
| XM_005271323.2:c.1251T>C | XP_005271380.1:p.Tyr417= | |
| XM_005271324.3:c.1101T>C | XP_005271381.1:p.Tyr367= | |
| XM_005271325.2:c.1251+2385T>C | XP_005271382.1:n.1251+2385T>C | |
| XM_005271326.2:c.1059T>C | XP_005271383.1:p.Tyr353= | |
| XM_005271327.2:c.876T>C | XP_005271384.1:p.Tyr292= | |
| XM_005271322.4:c.1293T>C | XP_005271379.1:p.Tyr431= | |
| XM_005271323.4:c.1251T>C | XP_005271380.1:p.Tyr417= | |
| XM_005271324.5:c.1101T>C | XP_005271381.1:p.Tyr367= | |
| XM_005271325.4:c.1251+2385T>C | XP_005271382.1:n.1251+2385T>C | |
| XM_005271326.4:c.1059T>C | XP_005271383.1:p.Tyr353= | |
| XM_005271327.4:c.876T>C | XP_005271384.1:p.Tyr292= | |
| NM_001172309.2:c.1101T>C | NP_001165780.1:p.Tyr367= | |
| NM_144573.4:c.1293T>C MANE Select | NP_653174.3:p.Tyr431= |