Linked Data
dbSNP Id:
rs4808136
gnomAD v2:
19-18618867-G-A
gnomAD v3:
19-18508057-G-A
gnomAD v4:
19-18508057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18508057G>A , CM000681.2:g.18508057G>A | GRCh38 |
| NC_000019.9:g.18618867G>A , CM000681.1:g.18618867G>A | GRCh37 |
| NC_000019.8:g.18479867G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262809.9:c.135+13864C>T MANE Select | ENSP00000262809.3:n.135+13864C>T | |
| ENST00000262809.8:c.135+13864C>T | ENSP00000262809.3:n.135+13864C>T | |
| ENST00000594635.6:c.135+13864C>T | ENSP00000475681.2:n.135+13864C>T | |
| ENST00000596915.1:n.147+13864C>T | ||
| NM_006532.3:c.135+13864C>T | NP_006523.1:n.135+13864C>T | |
| XM_011528330.1:c.135+13864C>T | XP_011526632.1:n.135+13864C>T | |
| XR_936207.1:n.209+13864C>T | ||
| XM_011528330.3:c.135+13864C>T | XP_011526632.2:n.135+13864C>T | |
| XM_017027335.1:c.-385+13864C>T | XP_016882824.1:n.-385+13864C>T | |
| XR_001753769.2:n.140+13864C>T | ||
| XR_936207.3:n.140+13864C>T | ||
| NM_006532.4:c.135+13864C>T MANE Select | NP_006523.1:n.135+13864C>T |