Linked Data
dbSNP Id:
rs1364741256
gnomAD v2:
2-190430169-C-A
gnomAD v3:
2-189565443-C-A
gnomAD v4:
2-189565443-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565443C>A , CM000664.2:g.189565443C>A | GRCh38 |
| NC_000002.11:g.190430169C>A , CM000664.1:g.190430169C>A | GRCh37 |
| NC_000002.10:g.190138414C>A | NCBI36 |
| NG_009027.1:g.20369G>T , LRG_837:g.20369G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.671G>T MANE Select | ENSP00000261024.3:p.Trp224Leu | |
| ENST00000261024.6:c.671G>T | ENSP00000261024.2:p.Trp224Leu | |
| NM_014585.5:c.671G>T , LRG_837t1:c.671G>T | NP_055400.1:p.Trp224Leu | |
| XM_005246505.1:c.551G>T | XP_005246562.1:p.Trp184Leu | |
| XM_005246505.2:c.551G>T | XP_005246562.1:p.Trp184Leu | |
| XM_017003938.2:c.551G>T | XP_016859427.1:p.Trp184Leu | |
| NM_014585.6:c.671G>T MANE Select | NP_055400.1:p.Trp224Leu |