Linked Data
dbSNP Id:
rs1008317398
gnomAD v2:
12-96383976-G-C
gnomAD v3:
12-95990198-G-C
gnomAD v4:
12-95990198-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990198G>C , CM000674.2:g.95990198G>C | GRCh38 |
| NC_000012.11:g.96383976G>C , CM000674.1:g.96383976G>C | GRCh37 |
| NC_000012.10:g.94908107G>C | NCBI36 |
| NG_008180.1:g.11096C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.855+195C>G MANE Select | ENSP00000261208.3:n.855+195C>G | |
| ENST00000261208.7:c.855+195C>G | ENSP00000261208.3:n.855+195C>G | |
| ENST00000538703.5:c.855+195C>G | ENSP00000440861.1:n.855+195C>G | |
| ENST00000541929.5:c.231+195C>G | ENSP00000446364.1:n.231+195C>G | |
| ENST00000544080.6:c.*284+195C>G | ENSP00000439385.2:n.*284+195C>G | |
| ENST00000546999.5:c.*284+195C>G | ENSP00000447675.1:n.*284+195C>G | |
| ENST00000551562.1:n.115+195C>G | ||
| ENST00000552509.5:c.819+195C>G | ENSP00000450372.1:n.819+195C>G | |
| NM_001258333.1:c.231+195C>G | NP_001245262.1:n.231+195C>G | |
| NM_001258334.1:c.855+195C>G | NP_001245263.1:n.855+195C>G | |
| NM_002108.3:c.855+195C>G | NP_002099.1:n.855+195C>G | |
| XM_011538249.1:c.4-1958C>G | XP_011536551.1:n.4-1958C>G | |
| XM_011538249.2:c.4-1958C>G | XP_011536551.1:n.4-1958C>G | |
| XM_017019246.1:c.-432C>G | XP_016874735.1:n.-432C>G | |
| NM_002108.4:c.855+195C>G MANE Select | NP_002099.1:n.855+195C>G | |
| NM_001258334.2:c.855+195C>G | NP_001245263.1:n.855+195C>G | |
| NM_001258333.2:c.231+195C>G | NP_001245262.1:n.231+195C>G |