Linked Data
dbSNP Id:
rs759374386
ExAC:
12:102161823 T / C
gnomAD v2:
12-102161823-T-C
gnomAD v3:
12-101768045-T-C
gnomAD v4:
12-101768045-T-C
MyVariant Identifiers:
chr12:g.102161823T>C (hg19)
chr12:g.102161823_102161824delinsCC (hg19)
chr12:g.101768045T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101768045T>C , CM000674.2:g.101768045T>C | GRCh38 |
| NC_000012.11:g.102161823T>C , CM000674.1:g.102161823T>C | GRCh37 |
| NC_000012.10:g.100685954T>C | NCBI36 |
| NG_021243.1:g.67823A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1400A>G MANE Select | ENSP00000299314.7:p.Asp467Gly | |
| ENST00000299314.11:c.1400A>G | ENSP00000299314.7:p.Asp467Gly | |
| ENST00000549940.5:c.1400A>G | ENSP00000449150.1:p.Asp467Gly | |
| ENST00000552009.1:n.59A>G | ||
| NM_024312.4:c.1400A>G | NP_077288.2:p.Asp467Gly | |
| XM_006719593.2:c.1400A>G | XP_006719656.1:p.Asp467Gly | |
| XM_011538731.1:c.1319A>G | XP_011537033.1:p.Asp440Gly | |
| XM_006719593.3:c.1400A>G | XP_006719656.1:p.Asp467Gly | |
| XM_011538731.2:c.1319A>G | XP_011537033.1:p.Asp440Gly | |
| XM_017019961.1:c.1184A>G | XP_016875450.1:p.Asp395Gly | |
| XM_017019962.2:c.173A>G | XP_016875451.1:p.Asp58Gly | |
| NM_024312.5:c.1400A>G MANE Select | NP_077288.2:p.Asp467Gly |