Linked Data
dbSNP Id:
rs1737880531
gnomAD v4:
4-4860232-G-A
MyVariant Identifiers:
chr4:g.4861959G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860232G>A , CM000666.2:g.4860232G>A | GRCh38 |
| NC_000004.11:g.4861959G>A , CM000666.1:g.4861959G>A | GRCh37 |
| NC_000004.10:g.4912860G>A | NCBI36 |
| NG_008121.1:g.5568G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.333G>A MANE Select | ENSP00000372170.4:p.Ser111= | |
| ENST00000382723.4:c.333G>A | ENSP00000372170.4:p.Ser111= | |
| NM_002448.3:c.333G>A MANE Select | NP_002439.2:p.Ser111= |