Linked Data
dbSNP Id:
rs10857712
gnomAD v2:
10-135225666-T-C
gnomAD v3:
10-133412162-T-C
gnomAD v4:
10-133412162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133412162T>C , CM000672.2:g.133412162T>C | GRCh38 |
| NC_000010.10:g.135225666T>C , CM000672.1:g.135225666T>C | GRCh37 |
| NC_000010.9:g.135075656T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317502.11:c.753-7318T>C MANE Select | ENSP00000323047.6:n.753-7318T>C | |
| ENST00000468317.3:c.*677-7318T>C | ENSP00000436767.2:n.*677-7318T>C | |
| ENST00000317502.10:c.753-7318T>C | ENSP00000323047.6:n.753-7318T>C | |
| ENST00000432508.3:c.600-7318T>C | ENSP00000393480.2:n.600-7318T>C | |
| ENST00000460848.5:n.1336-7318T>C | ||
| ENST00000468317.2:c.768-7318T>C | ENSP00000436767.1:n.768-7318T>C | |
| ENST00000473735.1:n.1607-7318T>C | ||
| ENST00000477902.6:c.630-7318T>C | ENSP00000475596.1:n.630-7318T>C | |
| NM_138384.2:c.753-7318T>C | NP_612393.2:n.753-7318T>C | |
| NM_138384.3:c.753-7318T>C | NP_612393.2:n.753-7318T>C | |
| NM_138384.4:c.753-7318T>C MANE Select | NP_612393.2:n.753-7318T>C |