Linked Data
dbSNP Id:
rs1318043833
gnomAD v2:
2-176958361-A-C
gnomAD v3:
2-176093633-A-C
gnomAD v4:
2-176093633-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093633A>C , CM000664.2:g.176093633A>C | GRCh38 |
| NC_000002.11:g.176958361A>C , CM000664.1:g.176958361A>C | GRCh37 |
| NC_000002.10:g.176666607A>C | NCBI36 |
| NG_008137.1:g.5830A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.743A>C MANE Select | ENSP00000376322.3:p.Gln248Pro | |
| ENST00000392539.3:c.743A>C | ENSP00000376322.3:p.Gln248Pro | |
| NM_000523.3:c.743A>C | NP_000514.2:p.Gln248Pro | |
| XM_011511068.1:c.725-847A>C | XP_011509370.1:n.725-847A>C | |
| XM_011511068.2:c.725-847A>C | XP_011509370.1:n.725-847A>C | |
| NM_000523.4:c.743A>C MANE Select | NP_000514.2:p.Gln248Pro |