Linked Data
dbSNP Id:
rs761924502
ExAC:
2:190436435 A / T
gnomAD v2:
2-190436435-A-T
gnomAD v4:
2-189571709-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571709A>T , CM000664.2:g.189571709A>T | GRCh38 |
| NC_000002.11:g.190436435A>T , CM000664.1:g.190436435A>T | GRCh37 |
| NC_000002.10:g.190144680A>T | NCBI36 |
| NG_009027.1:g.14103T>A , LRG_837:g.14103T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.514+6T>A MANE Select | ENSP00000261024.3:n.514+6T>A | |
| ENST00000261024.6:c.514+6T>A | ENSP00000261024.2:n.514+6T>A | |
| ENST00000427241.5:c.514+6T>A | ENSP00000390005.1:n.514+6T>A | |
| NM_014585.5:c.514+6T>A , LRG_837t1:c.514+6T>A | NP_055400.1:n.514+6T>A | |
| XM_005246505.1:c.394+6T>A | XP_005246562.1:n.394+6T>A | |
| XM_005246505.2:c.394+6T>A | XP_005246562.1:n.394+6T>A | |
| XM_017003938.2:c.394+6T>A | XP_016859427.1:n.394+6T>A | |
| NM_014585.6:c.514+6T>A MANE Select | NP_055400.1:n.514+6T>A |