Linked Data
dbSNP Id:
rs2110039315
gnomAD v4:
4-55125276-C-T
MyVariant Identifiers:
chr4:g.55991443C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125276C>T , CM000666.2:g.55125276C>T | GRCh38 |
| NC_000004.11:g.55991443C>T , CM000666.1:g.55991443C>T | GRCh37 |
| NC_000004.10:g.55686200C>T | NCBI36 |
| NG_012004.1:g.5320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.18G>A MANE Select | ENSP00000263923.4:p.Leu6= | |
| ENST00000263923.4:c.18G>A | ENSP00000263923.4:p.Leu6= | |
| ENST00000512566.1:n.18G>A | ||
| NM_002253.2:c.18G>A | NP_002244.1:p.Leu6= | |
| NM_002253.3:c.18G>A | NP_002244.1:p.Leu6= | |
| NM_002253.4:c.18G>A MANE Select | NP_002244.1:p.Leu6= |