Linked Data
ClinVar Variation Id:
2413831
ClinVar RCV Id:
RCV003104627
gnomAD v4:
4-88007751-C-G
MyVariant Identifiers:
chr4:g.88928903C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007751C>G , CM000666.2:g.88007751C>G | GRCh38 |
| NC_000004.11:g.88928903C>G , CM000666.1:g.88928903C>G | GRCh37 |
| NC_000004.10:g.89147927C>G | NCBI36 |
| NG_008604.1:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.18C>G MANE Select | ENSP00000237596.2:p.Arg6= | |
| ENST00000237596.6:c.18C>G | ENSP00000237596.2:p.Arg6= | |
| NM_000297.3:c.18C>G | NP_000288.1:p.Arg6= | |
| XM_011532028.1:c.18C>G | XP_011530330.1:p.Arg6= | |
| XR_244632.2:n.113C>G | ||
| NR_156488.1:n.105C>G | ||
| XM_011532028.2:c.18C>G | XP_011530330.1:p.Arg6= | |
| NM_000297.4:c.18C>G MANE Select | NP_000288.1:p.Arg6= | |
| NR_156488.2:n.117C>G |