Linked Data
dbSNP Id:
rs1944552723
gnomAD v4:
12-6870051-C-G
MyVariant Identifiers:
chr12:g.6979215C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870051C>G , CM000674.2:g.6870051C>G | GRCh38 |
| NC_000012.11:g.6979215C>G , CM000674.1:g.6979215C>G | GRCh37 |
| NC_000012.10:g.6849476C>G | NCBI36 |
| NG_011948.1:g.7632C>G | |
| NG_013308.1:g.8307G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.546C>G MANE Select | ENSP00000379933.4:p.Ala182= | |
| ENST00000229270.8:c.657C>G | ENSP00000229270.4:p.Ala219= | |
| ENST00000396705.9:c.546C>G | ENSP00000379933.4:p.Ala182= | |
| ENST00000474253.1:n.35C>G | ||
| ENST00000482209.1:n.242C>G | ||
| ENST00000488464.6:c.300C>G | ENSP00000475620.1:p.Ala100= | |
| ENST00000493987.5:c.300C>G | ENSP00000475364.1:p.Ala100= | |
| ENST00000535434.5:c.300C>G | ENSP00000443599.1:p.Ala100= | |
| ENST00000613953.4:c.657C>G | ENSP00000484435.1:p.Ala219= | |
| NM_000365.5:c.546C>G | NP_000356.1:p.Ala182= | |
| NM_001159287.1:c.657C>G | NP_001152759.1:p.Ala219= | |
| NM_001258026.1:c.300C>G | NP_001244955.1:p.Ala100= | |
| XR_002957378.1:n.1554C>G | ||
| NM_000365.6:c.546C>G MANE Select | NP_000356.1:p.Ala182= | |
| NM_001258026.2:c.300C>G | NP_001244955.1:p.Ala100= |