Linked Data
ClinVar Variation Id:
226463
dbSNP Id:
rs182286598
ExAC:
19:45682698 C / A
gnomAD v2:
19-45682698-C-A
gnomAD v3:
19-45179440-C-A
gnomAD v4:
19-45179440-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45179440C>A , CM000681.2:g.45179440C>A | GRCh38 |
| NC_000019.9:g.45682698C>A , CM000681.1:g.45682698C>A | GRCh37 |
| NC_000019.8:g.50374538C>A | NCBI36 |
| NG_008372.1:g.5696C>A , LRG_546:g.5696C>A | |
| NG_033044.1:g.3804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433642.3:c.144C>A (BLOC1S3) MANE Select | ENSP00000393840.1:p.Arg48= | |
| ENST00000433642.2:c.144C>A (BLOC1S3) | ENSP00000393840.1:p.Arg48= | |
| ENST00000587566.5:c.-276-79549C>A (MARK4) | ENSP00000465414.1:n.-276-79549C>A | |
| ENST00000587722.1:c.144C>A (BLOC1S3) | ENSP00000468281.1:p.Arg48= | |
| NM_212550.3:c.144C>A (BLOC1S3) | NP_997715.1:p.Arg48= | |
| NM_212550.4:c.144C>A , LRG_546t1:c.144C>A (BLOC1S3) | NP_997715.1:p.Arg48= | |
| XM_011526952.1:c.144C>A (BLOC1S3) | XP_011525254.1:p.Arg48= | |
| XR_935826.1:n.648C>A (BLOC1S3) | ||
| XR_935827.1:n.648C>A (BLOC1S3) | ||
| XR_935828.1:n.648C>A (BLOC1S3) | ||
| XR_935829.1:n.648C>A (BLOC1S3) | ||
| XR_001753683.1:n.648C>A (BLOC1S3) | ||
| NM_212550.5:c.144C>A (BLOC1S3) MANE Select | NP_997715.1:p.Arg48= |