Linked Data
dbSNP Id:
rs762208491
ExAC:
1:67519718 C / A
gnomAD v2:
1-67519718-C-A
gnomAD v4:
1-67054035-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67054035C>A , CM000663.2:g.67054035C>A | GRCh38 |
| NC_000001.10:g.67519718C>A , CM000663.1:g.67519718C>A | GRCh37 |
| NC_000001.9:g.67292306C>A | NCBI36 |
| NG_012933.1:g.5363G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.-22G>T MANE Select | ENSP00000235345.5:n.-22G>T | |
| ENST00000235345.5:c.-22G>T | ENSP00000235345.5:n.-22G>T | |
| NM_015139.2:c.-22G>T | NP_055954.1:n.-22G>T | |
| XM_006710478.1:c.-22G>T | XP_006710541.1:n.-22G>T | |
| XM_011541070.1:c.-22G>T | XP_011539372.1:n.-22G>T | |
| XM_006710478.2:c.-22G>T | XP_006710541.1:n.-22G>T | |
| XM_011541070.2:c.-22G>T | XP_011539372.1:n.-22G>T | |
| XR_001737057.2:n.389G>T | ||
| XR_001737058.2:n.382G>T | ||
| NM_015139.3:c.-22G>T MANE Select | NP_055954.1:n.-22G>T |