Linked Data
dbSNP Id:
rs12014709
gnomAD v2:
X-66938466-T-G
gnomAD v3:
X-67718624-T-G
gnomAD v4:
X-67718624-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67718624T>G , CM000685.2:g.67718624T>G | GRCh38 |
| NC_000023.10:g.66938466T>G , CM000685.1:g.66938466T>G | GRCh37 |
| NC_000023.9:g.66855191T>G | NCBI36 |
| NG_009014.2:g.179593T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*666+1002T>G | ENSP00000379358.4:n.*666+1002T>G | |
| ENST00000374690.9:c.2318+1002T>G MANE Select | ENSP00000363822.3:n.2318+1002T>G | |
| ENST00000396043.3:c.945+1002T>G | ENSP00000379358.3:n.945+1002T>G | |
| ENST00000396044.8:c.2174-5062T>G | ENSP00000379359.3:n.2174-5062T>G | |
| ENST00000612452.5:c.2318+1002T>G | ENSP00000484033.2:n.2318+1002T>G | |
| ENST00000374690.7:c.2318+1002T>G | ENSP00000363822.3:n.2318+1002T>G | |
| ENST00000396043.2:c.722+1002T>G | ENSP00000379358.2:n.722+1002T>G | |
| ENST00000396044.7:c.2174-5062T>G | ENSP00000379359.3:n.2174-5062T>G | |
| ENST00000612452.4:c.1748+1002T>G | ENSP00000484033.1:n.1748+1002T>G | |
| NM_000044.3:c.2318+1002T>G | NP_000035.2:n.2318+1002T>G | |
| NM_001011645.2:c.722+1002T>G | NP_001011645.1:n.722+1002T>G | |
| NM_000044.4:c.2318+1002T>G | NP_000035.2:n.2318+1002T>G | |
| NM_001011645.3:c.722+1002T>G | NP_001011645.1:n.722+1002T>G | |
| NM_000044.6:c.2318+1002T>G MANE Select | NP_000035.2:n.2318+1002T>G |