Linked Data
dbSNP Id:
rs17356664
gnomAD v2:
19-45740771-C-T
gnomAD v3:
19-45237513-C-T
gnomAD v4:
19-45237513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45237513C>T , CM000681.2:g.45237513C>T | GRCh38 |
| NC_000019.9:g.45740771C>T , CM000681.1:g.45740771C>T | GRCh37 |
| NC_000019.8:g.50432611C>T | NCBI36 |
| NG_054912.1:g.1699G>A | |
| NG_054912.2:g.12895G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413988.3:c.523+1010G>A (EXOC3L2) MANE Select | ENSP00000400713.2:n.523+1010G>A | |
| ENST00000587566.5:c.-276-21476C>T (MARK4) | ENSP00000465414.1:n.-276-21476C>T | |
| NM_001382422.1:c.523+1010G>A (EXOC3L2) MANE Select | NP_001369351.1:n.523+1010G>A |