Linked Data
dbSNP Id:
rs750238231
ExAC:
4:46995369 A / G
gnomAD v2:
4-46995369-A-G
gnomAD v4:
4-46993352-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993352A>G , CM000666.2:g.46993352A>G | GRCh38 |
| NC_000004.11:g.46995369A>G , CM000666.1:g.46995369A>G | GRCh37 |
| NC_000004.10:g.46690126A>G | NCBI36 |
| NG_011809.1:g.5212T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.73T>C MANE Select | ENSP00000264318.3:p.Cys25Arg | |
| ENST00000264318.3:c.73T>C | ENSP00000264318.3:p.Cys25Arg | |
| ENST00000502874.1:c.73T>C | ENSP00000424386.1:p.Cys25Arg | |
| ENST00000508560.5:c.18+55T>C | ENSP00000425445.1:n.18+55T>C | |
| ENST00000509316.1:n.197T>C | ||
| ENST00000511523.5:c.18+55T>C | ENSP00000422152.1:n.18+55T>C | |
| NM_000809.3:c.73T>C | NP_000800.2:p.Cys25Arg | |
| NM_001204266.1:c.29+55T>C | NP_001191195.1:n.29+55T>C | |
| NM_001204267.1:c.29+55T>C | NP_001191196.1:n.29+55T>C | |
| XM_011513677.1:c.73T>C | XP_011511979.1:p.Cys25Arg | |
| NM_000809.4:c.73T>C MANE Select | NP_000800.2:p.Cys25Arg | |
| NM_001204266.2:c.29+55T>C | NP_001191195.1:n.29+55T>C | |
| NM_001204267.2:c.29+55T>C | NP_001191196.1:n.29+55T>C |