Linked Data
dbSNP Id:
rs751396272
ExAC:
2:136575322 A / G
gnomAD v2:
2-136575322-A-G
gnomAD v3:
2-135817752-A-G
gnomAD v4:
2-135817752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817752A>G , CM000664.2:g.135817752A>G | GRCh38 |
| NC_000002.11:g.136575322A>G , CM000664.1:g.136575322A>G | GRCh37 |
| NC_000002.10:g.136291792A>G | NCBI36 |
| NG_008104.2:g.42418T>C , LRG_338:g.42418T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1296T>C MANE Select | ENSP00000264162.2:p.Ser432= | |
| ENST00000264162.6:c.1296T>C | ENSP00000264162.2:p.Ser432= | |
| NM_002299.2:c.1296T>C , LRG_338t1:c.1296T>C | NP_002290.2:p.Ser432= | |
| NM_002299.3:c.1296T>C | NP_002290.2:p.Ser432= | |
| XM_017004088.2:c.1296T>C | XP_016859577.1:p.Ser432= | |
| NM_002299.4:c.1296T>C MANE Select | NP_002290.2:p.Ser432= |