Linked Data
dbSNP Id:
rs12557310
gnomAD v2:
X-154735698-T-C
gnomAD v3:
X-155506037-T-C
gnomAD v4:
X-155506037-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155506037T>C , CM000685.2:g.155506037T>C | GRCh38 |
| NC_000023.10:g.154735698T>C , CM000685.1:g.154735698T>C | GRCh37 |
| NC_000023.9:g.154388892T>C | NCBI36 |
| NG_021318.1:g.111925A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334398.8:c.995+861A>G MANE Select | ENSP00000335261.3:n.995+861A>G | |
| ENST00000675642.1:c.1028+861A>G | ENSP00000502604.1:n.1028+861A>G | |
| ENST00000334398.7:c.995+861A>G | ENSP00000335261.3:n.995+861A>G | |
| ENST00000369439.4:c.995+861A>G | ENSP00000358447.4:n.995+861A>G | |
| NM_001184797.1:c.995+861A>G | NP_001171726.1:n.995+861A>G | |
| NM_018196.3:c.995+861A>G | NP_060666.1:n.995+861A>G | |
| XM_011531182.1:c.842+861A>G | XP_011529484.1:n.842+861A>G | |
| XR_247318.1:n.1166+861A>G | ||
| XM_011531182.3:c.842+861A>G | XP_011529484.1:n.842+861A>G | |
| XR_247318.3:n.1140+861A>G | ||
| NM_018196.4:c.995+861A>G MANE Select | NP_060666.1:n.995+861A>G | |
| NM_001184797.2:c.995+861A>G | NP_001171726.1:n.995+861A>G |