Linked Data
dbSNP Id:
rs762161838
ExAC:
6:31590652 A / G
gnomAD v2:
6-31590652-A-G
gnomAD v4:
6-31622875-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622875A>G , CM000668.2:g.31622875A>G | GRCh38 |
| NC_000006.11:g.31590652A>G , CM000668.1:g.31590652A>G | GRCh37 |
| NC_000006.10:g.31698631A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.86A>G MANE Select | ENSP00000365201.2:p.Lys29Arg | |
| ENST00000376007.8:c.86A>G | ENSP00000365175.4:p.Lys29Arg | |
| ENST00000376033.2:c.86A>G | ENSP00000365201.2:p.Lys29Arg | |
| ENST00000469577.5:n.136-1386A>G | ||
| NM_004638.3:c.86A>G | NP_004629.3:p.Lys29Arg | |
| NM_080686.2:c.86A>G | NP_542417.2:p.Lys29Arg | |
| XM_011514890.1:c.86A>G | XP_011513192.1:p.Lys29Arg | |
| XM_017011274.1:c.86A>G | XP_016866763.1:p.Lys29Arg | |
| NM_004638.4:c.86A>G MANE Select | NP_004629.3:p.Lys29Arg | |
| NM_080686.3:c.86A>G | NP_542417.2:p.Lys29Arg |