Linked Data
dbSNP Id:
rs1871993643
gnomAD v4:
12-114403776-G-C
MyVariant Identifiers:
chr12:g.114841581G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403776G>C , CM000674.2:g.114403776G>C | GRCh38 |
| NC_000012.11:g.114841581G>C , CM000674.1:g.114841581G>C | GRCh37 |
| NC_000012.10:g.113325964G>C | NCBI36 |
| NG_007373.1:g.9667C>G , LRG_670:g.9667C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.123C>G MANE Select | ENSP00000384152.3:p.Ser41= | |
| ENST00000310346.8:c.123C>G | ENSP00000309913.4:p.Ser41= | |
| ENST00000349716.9:c.-3-1856C>G | ENSP00000337723.5:n.-3-1856C>G | |
| ENST00000405440.6:c.123C>G | ENSP00000384152.2:p.Ser41= | |
| ENST00000526441.1:c.123C>G | ENSP00000433292.1:p.Ser41= | |
| ENST00000552726.1:n.174C>G | ||
| NM_000192.3:c.123C>G , LRG_670t1:c.123C>G | NP_000183.2:p.Ser41= | |
| NM_080717.2:c.-3-1856C>G | NP_542448.1:n.-3-1856C>G | |
| NM_181486.2:c.123C>G | NP_852259.1:p.Ser41= | |
| XM_017019912.1:c.171C>G | XP_016875401.1:p.Ser57= | |
| NM_080717.3:c.-3-1856C>G | NP_542448.1:n.-3-1856C>G | |
| NM_181486.4:c.123C>G MANE Select | NP_852259.1:p.Ser41= | |
| NM_080717.4:c.-3-1856C>G | NP_542448.1:n.-3-1856C>G |