Linked Data
dbSNP Id:
rs201701803
ExAC:
1:152280133 C / A
gnomAD v2:
1-152280133-C-A
gnomAD v3:
1-152307657-C-A
gnomAD v4:
1-152307657-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152307657C>A , CM000663.2:g.152307657C>A | GRCh38 |
| NC_000001.10:g.152280133C>A , CM000663.1:g.152280133C>A | GRCh37 |
| NC_000001.9:g.150546757C>A | NCBI36 |
| NG_016190.1:g.22547G>T , LRG_1028:g.22547G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.7229G>T MANE Select | ENSP00000357789.1:p.Arg2410Leu | |
| ENST00000368799.1:c.7229G>T | ENSP00000357789.1:p.Arg2410Leu | |
| NM_002016.1:c.7229G>T , LRG_1028t1:c.7229G>T | NP_002007.1:p.Arg2410Leu | |
| XM_011509329.1:c.7229G>T | XP_011507631.1:p.Arg2410Leu | |
| NM_002016.2:c.7229G>T MANE Select | NP_002007.1:p.Arg2410Leu |