Linked Data
dbSNP Id:
rs770213432
ExAC:
2:208994212 A / T
gnomAD v2:
2-208994212-A-T
gnomAD v4:
2-208129488-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129488A>T , CM000664.2:g.208129488A>T | GRCh38 |
| NC_000002.11:g.208994212A>T , CM000664.1:g.208994212A>T | GRCh37 |
| NC_000002.10:g.208702457A>T | NCBI36 |
| NG_008038.1:g.5343T>A | |
| NG_008039.1:g.102T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.205T>A MANE Select | ENSP00000282141.3:p.Trp69Arg | |
| ENST00000282141.3:c.205T>A | ENSP00000282141.3:p.Trp69Arg | |
| NM_020989.3:c.205T>A | NP_066269.1:p.Trp69Arg | |
| NR_038437.1:n.98-7568A>T | ||
| XM_011510661.1:c.205T>A | XP_011508963.1:p.Trp69Arg | |
| XM_011510662.1:c.205T>A | XP_011508964.1:p.Trp69Arg | |
| XM_011510663.1:c.76T>A | XP_011508965.1:p.Trp26Arg | |
| NM_020989.4:c.205T>A MANE Select | NP_066269.1:p.Trp69Arg |