Linked Data
dbSNP Id:
rs1415384987
gnomAD v2:
2-136608822-T-C
gnomAD v3:
2-135851252-T-C
gnomAD v4:
2-135851252-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851252T>C , CM000664.2:g.135851252T>C | GRCh38 |
| NC_000002.11:g.136608822T>C , CM000664.1:g.136608822T>C | GRCh37 |
| NC_000002.10:g.136325292T>C | NCBI36 |
| NG_008104.2:g.8918A>G , LRG_338:g.8918A>G | |
| NG_008958.1:g.30190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1917+150A>G MANE Select | ENSP00000264156.2:n.1917+150A>G | |
| ENST00000264156.2:c.1917+150A>G | ENSP00000264156.2:n.1917+150A>G | |
| ENST00000483902.1:n.544+150A>G | ||
| ENST00000492091.1:n.343+150A>G | ||
| NM_005915.5:c.1917+150A>G | NP_005906.2:n.1917+150A>G | |
| NM_005915.6:c.1917+150A>G MANE Select | NP_005906.2:n.1917+150A>G |