Linked Data
dbSNP Id:
rs765725243
ExAC:
2:29296415 T / C
gnomAD v2:
2-29296415-T-C
gnomAD v4:
2-29073549-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073549T>C , CM000664.2:g.29073549T>C | GRCh38 |
| NC_000002.11:g.29296415T>C , CM000664.1:g.29296415T>C | GRCh37 |
| NC_000002.10:g.29149919T>C | NCBI36 |
| NG_021427.1:g.5713A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.713A>G MANE Select | ENSP00000332809.4:p.Lys238Arg | |
| ENST00000331664.5:c.713A>G | ENSP00000332809.4:p.Lys238Arg | |
| NM_001029883.2:c.713A>G | NP_001025054.1:p.Lys238Arg | |
| XM_011532826.1:c.713A>G | XP_011531128.1:p.Lys238Arg | |
| XR_939901.1:n.185+4382T>C | ||
| XR_939902.1:n.173+4394T>C | ||
| NM_001029883.3:c.713A>G MANE Select | NP_001025054.1:p.Lys238Arg |