Linked Data
dbSNP Id:
rs762002935
ExAC:
11:88911761 T / C
gnomAD v2:
11-88911761-T-C
gnomAD v4:
11-89178593-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178593T>C , CM000673.2:g.89178593T>C | GRCh38 |
| NC_000011.9:g.88911761T>C , CM000673.1:g.88911761T>C | GRCh37 |
| NC_000011.8:g.88551409T>C | NCBI36 |
| NG_008748.1:g.5722T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.640T>C MANE Select | ENSP00000263321.4:p.Phe214Leu | |
| ENST00000263321.5:c.640T>C | ENSP00000263321.4:p.Phe214Leu | |
| ENST00000526139.1:n.701T>C | ||
| NM_000372.4:c.640T>C | NP_000363.1:p.Phe214Leu | |
| XM_011542970.1:c.640T>C | XP_011541272.1:p.Phe214Leu | |
| XM_011542970.2:c.640T>C | XP_011541272.1:p.Phe214Leu | |
| XR_001748321.1:n.2718-65060A>G | ||
| XR_001748322.1:n.2733-65060A>G | ||
| NM_000372.5:c.640T>C MANE Select | NP_000363.1:p.Phe214Leu |