Linked Data
dbSNP Id:
rs1028662209
gnomAD v2:
12-9097817-T-C
gnomAD v3:
12-8945221-T-C
gnomAD v4:
12-8945221-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8945221T>C , CM000674.2:g.8945221T>C | GRCh38 |
| NC_000012.11:g.9097817T>C , CM000674.1:g.9097817T>C | GRCh37 |
| NC_000012.10:g.8989084T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000000412.8:c.343+197A>G MANE Select | ENSP00000000412.3:n.343+197A>G | |
| ENST00000000412.7:c.343+197A>G | ENSP00000000412.3:n.343+197A>G | |
| ENST00000536844.5:c.343+197A>G | ENSP00000440488.2:n.343+197A>G | |
| ENST00000541507.5:c.343+197A>G | ENSP00000442100.1:n.343+197A>G | |
| ENST00000543258.1:c.179+197A>G | ||
| ENST00000543704.5:c.66+1082A>G | ENSP00000437595.1:n.66+1082A>G | |
| ENST00000543834.1:n.62+197A>G | ||
| ENST00000544245.1:c.-12+197A>G | ENSP00000439968.1:n.-12+197A>G | |
| NM_001207024.1:c.343+197A>G | NP_001193953.1:n.343+197A>G | |
| NM_002355.3:c.343+197A>G | NP_002346.1:n.343+197A>G | |
| XM_005253376.1:c.343+197A>G | XP_005253433.1:n.343+197A>G | |
| XM_011520672.1:c.343+197A>G | XP_011518974.1:n.343+197A>G | |
| XM_005253376.2:c.343+197A>G | XP_005253433.1:n.343+197A>G | |
| NM_002355.4:c.343+197A>G MANE Select | NP_002346.1:n.343+197A>G | |
| NM_001207024.2:c.343+197A>G | NP_001193953.1:n.343+197A>G |