Linked Data
dbSNP Id:
rs780588838
ExAC:
11:55579492 G / C
gnomAD v2:
11-55579492-G-C
gnomAD v3:
11-55812016-G-C
gnomAD v4:
11-55812016-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55812016G>C , CM000673.2:g.55812016G>C | GRCh38 |
| NC_000011.9:g.55579492G>C , CM000673.1:g.55579492G>C | GRCh37 |
| NC_000011.8:g.55336068G>C | NCBI36 |
| NG_052620.1:g.5650G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.550G>C MANE Select | ENSP00000485319.1:p.Val184Leu | |
| ENST00000333973.3:c.550G>C | ENSP00000335529.2:p.Val184Leu | |
| ENST00000623450.1:c.550G>C | ENSP00000485509.1:p.Val184Leu | |
| ENST00000625203.1:c.550G>C | ENSP00000485319.1:p.Val184Leu | |
| NM_001004738.1:c.550G>C | NP_001004738.1:p.Val184Leu | |
| NM_001004738.2:c.550G>C MANE Select | NP_001004738.1:p.Val184Leu |