Linked Data
dbSNP Id:
rs745757258
ExAC:
2:136590698 T / C
gnomAD v2:
2-136590698-T-C
gnomAD v3:
2-135833128-T-C
gnomAD v4:
2-135833128-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833128T>C , CM000664.2:g.135833128T>C | GRCh38 |
| NC_000002.11:g.136590698T>C , CM000664.1:g.136590698T>C | GRCh37 |
| NC_000002.10:g.136307168T>C | NCBI36 |
| NG_008104.2:g.27042A>G , LRG_338:g.27042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.703A>G MANE Select | ENSP00000264162.2:p.Ile235Val | |
| ENST00000264162.6:c.703A>G | ENSP00000264162.2:p.Ile235Val | |
| NM_002299.2:c.703A>G , LRG_338t1:c.703A>G | NP_002290.2:p.Ile235Val | |
| NM_002299.3:c.703A>G | NP_002290.2:p.Ile235Val | |
| XM_017004088.2:c.703A>G | XP_016859577.1:p.Ile235Val | |
| NM_002299.4:c.703A>G MANE Select | NP_002290.2:p.Ile235Val |