Linked Data
dbSNP Id:
rs371705651
ExAC:
12:102161830 C / T
gnomAD v2:
12-102161830-C-T
gnomAD v3:
12-101768052-C-T
gnomAD v4:
12-101768052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101768052C>T , CM000674.2:g.101768052C>T | GRCh38 |
| NC_000012.11:g.102161830C>T , CM000674.1:g.102161830C>T | GRCh37 |
| NC_000012.10:g.100685961C>T | NCBI36 |
| NG_021243.1:g.67816G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1393G>A MANE Select | ENSP00000299314.7:p.Gly465Ser | |
| ENST00000299314.11:c.1393G>A | ENSP00000299314.7:p.Gly465Ser | |
| ENST00000549940.5:c.1393G>A | ENSP00000449150.1:p.Gly465Ser | |
| ENST00000552009.1:n.52G>A | ||
| NM_024312.4:c.1393G>A | NP_077288.2:p.Gly465Ser | |
| XM_006719593.2:c.1393G>A | XP_006719656.1:p.Gly465Ser | |
| XM_011538731.1:c.1312G>A | XP_011537033.1:p.Gly438Ser | |
| XM_006719593.3:c.1393G>A | XP_006719656.1:p.Gly465Ser | |
| XM_011538731.2:c.1312G>A | XP_011537033.1:p.Gly438Ser | |
| XM_017019961.1:c.1177G>A | XP_016875450.1:p.Gly393Ser | |
| XM_017019962.2:c.166G>A | XP_016875451.1:p.Gly56Ser | |
| NM_024312.5:c.1393G>A MANE Select | NP_077288.2:p.Gly465Ser |