Linked Data
ClinVar Variation Id:
334277
dbSNP Id:
rs16853238
ExAC:
2:215914446 C / G
gnomAD v2:
2-215914446-C-G
gnomAD v3:
2-215049722-C-G
gnomAD v4:
2-215049722-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215049722C>G , CM000664.2:g.215049722C>G | GRCh38 |
| NC_000002.11:g.215914446C>G , CM000664.1:g.215914446C>G | GRCh37 |
| NC_000002.10:g.215622691C>G | NCBI36 |
| NG_007074.1:g.93706G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.597G>C MANE Select | ENSP00000272895.7:p.Trp199Cys | |
| ENST00000272895.11:c.597G>C | ENSP00000272895.7:p.Trp199Cys | |
| NM_173076.2:c.597G>C | NP_775099.2:p.Trp199Cys | |
| NR_103740.1:n.841G>C | ||
| XM_011510951.1:c.597G>C | XP_011509253.1:p.Trp199Cys | |
| XM_011510952.1:c.597G>C | XP_011509254.1:p.Trp199Cys | |
| XM_011510951.2:c.597G>C | XP_011509253.1:p.Trp199Cys | |
| NM_173076.3:c.597G>C MANE Select | NP_775099.2:p.Trp199Cys | |
| NR_103740.2:n.1039G>C |