Linked Data
dbSNP Id:
rs10245124
gnomAD v2:
7-8642354-T-C
gnomAD v3:
7-8602724-T-C
gnomAD v4:
7-8602724-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.8602724T>C , CM000669.2:g.8602724T>C | GRCh38 |
| NC_000007.13:g.8642354T>C , CM000669.1:g.8642354T>C | GRCh37 |
| NC_000007.12:g.8608879T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405863.6:c.55-148284T>C MANE Select | ENSP00000384551.1:n.55-148284T>C | |
| ENST00000405863.5:c.55-148284T>C | ENSP00000384551.1:n.55-148284T>C | |
| ENST00000429542.1:c.55-148284T>C | ENSP00000408216.1:n.55-148284T>C | |
| ENST00000438764.1:c.55-148284T>C | ENSP00000404689.1:n.55-148284T>C | |
| NM_152745.2:c.55-148284T>C | NP_689958.1:n.55-148284T>C | |
| XR_927017.1:n.283-8289A>G | ||
| XR_927018.1:n.350A>G | ||
| XR_927019.1:n.283-8289A>G | ||
| XR_927020.1:n.343-8289A>G | ||
| XR_001745082.2:n.3273-8289A>G | ||
| XR_001745083.2:n.573-8289A>G | ||
| XR_001745084.1:n.3273-8289A>G | ||
| XR_927017.3:n.3273-8289A>G | ||
| XR_927019.2:n.3273-8289A>G | ||
| NM_152745.3:c.55-148284T>C MANE Select | NP_689958.1:n.55-148284T>C |