dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216343848C>G , CM000664.2:g.216343848C>G | GRCh38 |
| NC_000002.11:g.217208571C>G , CM000664.1:g.217208571C>G | GRCh37 |
| NC_000002.10:g.216916816C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273067.5:c.516+25897G>C MANE Select | ENSP00000273067.3:n.516+25897G>C | |
| ENST00000273067.4:c.516+25897G>C | ENSP00000273067.3:n.516+25897G>C | |
| NM_020814.2:c.516+25897G>C | NP_065865.1:n.516+25897G>C | |
| XM_011511523.1:c.9+15392G>C | XP_011509825.1:n.9+15392G>C | |
| NM_020814.3:c.516+25897G>C MANE Select | NP_065865.1:n.516+25897G>C |