Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135845728T>C , CM000664.2:g.135845728T>C | GRCh38 |
| NC_000002.11:g.136603298T>C , CM000664.1:g.136603298T>C | GRCh37 |
| NC_000002.10:g.136319768T>C | NCBI36 |
| NG_008104.2:g.14442A>G , LRG_338:g.14442A>G | |
| NG_008958.1:g.35714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.2209+509A>G MANE Select | ENSP00000264156.2:n.2209+509A>G | |
| ENST00000264156.2:c.2209+509A>G | ENSP00000264156.2:n.2209+509A>G | |
| ENST00000492091.1:n.635+509A>G | ||
| NM_005915.5:c.2209+509A>G | NP_005906.2:n.2209+509A>G | |
| NM_005915.6:c.2209+509A>G MANE Select | NP_005906.2:n.2209+509A>G |