Linked Data
dbSNP Id:
rs1285795862
gnomAD v2:
2-176958351-A-C
gnomAD v3:
2-176093623-A-C
gnomAD v4:
2-176093623-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093623A>C , CM000664.2:g.176093623A>C | GRCh38 |
| NC_000002.11:g.176958351A>C , CM000664.1:g.176958351A>C | GRCh37 |
| NC_000002.10:g.176666597A>C | NCBI36 |
| NG_008137.1:g.5820A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.733A>C MANE Select | ENSP00000376322.3:p.Thr245Pro | |
| ENST00000392539.3:c.733A>C | ENSP00000376322.3:p.Thr245Pro | |
| NM_000523.3:c.733A>C | NP_000514.2:p.Thr245Pro | |
| XM_011511068.1:c.725-857A>C | XP_011509370.1:n.725-857A>C | |
| XM_011511068.2:c.725-857A>C | XP_011509370.1:n.725-857A>C | |
| NM_000523.4:c.733A>C MANE Select | NP_000514.2:p.Thr245Pro |