Linked Data
dbSNP Id:
rs1566067376
gnomAD v2:
12-102147261-A-G
gnomAD v4:
12-101753483-A-G
MyVariant Identifiers:
chr12:g.102147261A>G (hg19)
chr12:g.102147261_102147265delinsGCTGT (hg19)
chr12:g.101753483A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753483A>G , CM000674.2:g.101753483A>G | GRCh38 |
| NC_000012.11:g.102147261A>G , CM000674.1:g.102147261A>G | GRCh37 |
| NC_000012.10:g.100671392A>G | NCBI36 |
| NG_021243.1:g.82385T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3491T>C MANE Select | ENSP00000299314.7:p.Val1164Ala | |
| ENST00000299314.11:c.3491T>C | ENSP00000299314.7:p.Val1164Ala | |
| ENST00000549738.5:c.389T>C | ENSP00000450161.1:n.389T>C | |
| NM_024312.4:c.3491T>C | NP_077288.2:p.Val1164Ala | |
| XM_011538731.1:c.3410T>C | XP_011537033.1:p.Val1137Ala | |
| XM_011538731.2:c.3410T>C | XP_011537033.1:p.Val1137Ala | |
| XM_017019961.1:c.3275T>C | XP_016875450.1:p.Val1092Ala | |
| XM_017019962.2:c.2264T>C | XP_016875451.1:p.Val755Ala | |
| NM_024312.5:c.3491T>C MANE Select | NP_077288.2:p.Val1164Ala |