Linked Data
dbSNP Id:
rs377655015
ExAC:
11:67352210 A / G
gnomAD v2:
11-67352210-A-G
gnomAD v3:
11-67584739-A-G
gnomAD v4:
11-67584739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584739A>G , CM000673.2:g.67584739A>G | GRCh38 |
| NC_000011.9:g.67352210A>G , CM000673.1:g.67352210A>G | GRCh37 |
| NC_000011.8:g.67108786A>G | NCBI36 |
| NG_012075.1:g.6145A>G , LRG_723:g.6145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.199A>G | ENSP00000381604.1:p.Asn67Asp | |
| ENST00000398606.10:c.199A>G MANE Select | ENSP00000381607.3:p.Asn67Asp | |
| ENST00000646888.1:c.92A>G | ENSP00000494477.1:p.Gln31Arg | |
| ENST00000398603.5:c.199A>G | ENSP00000381604.1:p.Asn67Asp | |
| ENST00000398606.7:c.199A>G | ENSP00000381607.3:p.Asn67Asp | |
| ENST00000489040.1:n.198A>G | ||
| ENST00000494593.1:n.629A>G | ||
| ENST00000498765.5:c.162A>G | ||
| NM_000852.3:c.199A>G , LRG_723t1:c.199A>G | NP_000843.1:p.Asn67Asp | |
| NM_000852.4:c.199A>G MANE Select | NP_000843.1:p.Asn67Asp |