Linked Data
dbSNP Id:
rs2308567
ExAC:
6:31239107 C / T
gnomAD v2:
6-31239107-C-T
gnomAD v3:
6-31271330-C-T
gnomAD v4:
6-31271330-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271330C>T , CM000668.2:g.31271330C>T | GRCh38 |
| NC_000006.11:g.31239107C>T , CM000668.1:g.31239107C>T | GRCh37 |
| NC_000006.10:g.31347086C>T | NCBI36 |
| NG_029422.2:g.5802G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.362G>A MANE Select | ENSP00000365402.5:p.Arg121Lys | |
| ENST00000376228.9:c.362G>A | ENSP00000365402.5:p.Arg121Lys | |
| ENST00000376237.8:c.345G>A | ENSP00000365412.4:p.Glu115= | |
| ENST00000383329.7:c.362G>A | ENSP00000372819.3:p.Arg121Lys | |
| ENST00000415537.1:c.360G>A | ||
| ENST00000484378.1:n.631G>A | ||
| ENST00000487245.5:n.721G>A | ||
| ENST00000495835.1:n.551G>A | ||
| NM_002117.5:c.362G>A | NP_002108.4:p.Arg121Lys | |
| NM_002117.6:c.362G>A MANE Select | NP_002108.4:p.Arg121Lys |