Linked Data
gnomAD v4:
2-27085276-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085276G>C , CM000664.2:g.27085276G>C | GRCh38 |
| NC_000002.11:g.27308144G>C , CM000664.1:g.27308144G>C | GRCh37 |
| NC_000002.10:g.27161648G>C | NCBI36 |
| NG_012199.1:g.3534G>C | |
| NG_046849.1:g.11710G>C | |
| NG_012199.2:g.3534G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2692G>C MANE Select | ENSP00000369677.4:p.Gly898Arg | |
| ENST00000380320.8:c.2692G>C | ENSP00000369677.4:p.Gly898Arg | |
| ENST00000433140.1:c.684G>C | ||
| NM_007046.3:c.2692G>C | NP_008977.1:p.Gly898Arg | |
| XM_006711928.2:c.2575+268G>C | XP_006711991.1:n.2575+268G>C | |
| NM_007046.4:c.2692G>C MANE Select | NP_008977.1:p.Gly898Arg |