Linked Data
dbSNP Id:
rs768509346
ExAC:
2:27308099 G / C
gnomAD v2:
2-27308099-G-C
gnomAD v4:
2-27085231-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085231G>C , CM000664.2:g.27085231G>C | GRCh38 |
| NC_000002.11:g.27308099G>C , CM000664.1:g.27308099G>C | GRCh37 |
| NC_000002.10:g.27161603G>C | NCBI36 |
| NG_012199.1:g.3489G>C | |
| NG_046849.1:g.11665G>C | |
| NG_012199.2:g.3489G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2647G>C MANE Select | ENSP00000369677.4:p.Glu883Gln | |
| ENST00000380320.8:c.2647G>C | ENSP00000369677.4:p.Glu883Gln | |
| ENST00000433140.1:c.639G>C | ||
| NM_007046.3:c.2647G>C | NP_008977.1:p.Glu883Gln | |
| XM_006711928.2:c.2575+223G>C | XP_006711991.1:n.2575+223G>C | |
| NM_007046.4:c.2647G>C MANE Select | NP_008977.1:p.Glu883Gln |