Linked Data
dbSNP Id:
rs117626015
gnomAD v2:
12-41624795-T-C
gnomAD v3:
12-41230993-T-C
gnomAD v4:
12-41230993-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.41230993T>C , CM000674.2:g.41230993T>C | GRCh38 |
| NC_000012.11:g.41624795T>C , CM000674.1:g.41624795T>C | GRCh37 |
| NC_000012.10:g.39911062T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402685.7:c.843+36805T>C MANE Select | ENSP00000384197.2:n.843+36805T>C | |
| ENST00000402685.6:c.843+36805T>C | ENSP00000384197.2:n.843+36805T>C | |
| NM_001164595.1:c.843+36805T>C | NP_001158067.1:n.843+36805T>C | |
| XR_944528.1:n.1449+36805T>C | ||
| NM_001164595.2:c.843+36805T>C MANE Select | NP_001158067.1:n.843+36805T>C |