Linked Data
dbSNP Id:
rs200333140
ExAC:
2:27598404 A / G
gnomAD v2:
2-27598404-A-G
gnomAD v3:
2-27375537-A-G
gnomAD v4:
2-27375537-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375537A>G , CM000664.2:g.27375537A>G | GRCh38 |
| NC_000002.11:g.27598404A>G , CM000664.1:g.27598404A>G | GRCh37 |
| NC_000002.10:g.27451908A>G | NCBI36 |
| NG_028219.1:g.10208T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.806A>G MANE Select | ENSP00000233575.2:p.Tyr269Cys | |
| ENST00000233575.6:c.806A>G | ENSP00000233575.2:p.Tyr269Cys | |
| ENST00000427123.5:c.*616A>G | ENSP00000405399.1:n.*616A>G | |
| ENST00000440760.5:c.*651A>G | ENSP00000399727.1:n.*651A>G | |
| ENST00000453453.1:c.*333A>G | ENSP00000401922.1:n.*333A>G | |
| ENST00000493711.1:n.523A>G | ||
| ENST00000537606.5:c.731A>G | ENSP00000439208.1:p.Tyr244Cys | |
| NM_001267059.1:c.770A>G | NP_001253988.1:p.Tyr257Cys | |
| NM_001267060.1:c.731A>G | NP_001253989.1:p.Tyr244Cys | |
| NM_001267061.1:c.746A>G | NP_001253990.1:p.Tyr249Cys | |
| NM_014748.3:c.806A>G | NP_055563.1:p.Tyr269Cys | |
| NR_049782.1:n.1179A>G | ||
| NR_049783.1:n.1152A>G | ||
| NR_049784.1:n.1128A>G | ||
| NR_049785.1:n.1061A>G | ||
| NR_049786.1:n.1010A>G | ||
| NR_049787.1:n.861A>G | ||
| NR_049788.1:n.791A>G | ||
| XM_011533203.1:c.164A>G | XP_011531505.1:p.Tyr55Cys | |
| XM_011533203.2:c.164A>G | XP_011531505.1:p.Tyr55Cys | |
| XM_017005405.2:c.164A>G | XP_016860894.1:p.Tyr55Cys | |
| NM_014748.4:c.806A>G MANE Select | NP_055563.1:p.Tyr269Cys | |
| NM_001267059.2:c.770A>G | NP_001253988.1:p.Tyr257Cys | |
| NM_001267061.2:c.746A>G | NP_001253990.1:p.Tyr249Cys | |
| NR_049782.2:n.1059A>G | ||
| NR_049783.2:n.1032A>G | ||
| NR_049784.2:n.1008A>G | ||
| NR_049785.2:n.941A>G | ||
| NR_049786.2:n.890A>G | ||
| NR_049787.2:n.741A>G | ||
| NR_049788.2:n.671A>G | ||
| NM_001267060.2:c.731A>G | NP_001253989.1:p.Tyr244Cys |