Linked Data
dbSNP Id:
rs10636
gnomAD v2:
16-56643343-G-C
gnomAD v3:
16-56609431-G-C
gnomAD v4:
16-56609431-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56609431G>C , CM000678.2:g.56609431G>C | GRCh38 |
| NC_000016.9:g.56643343G>C , CM000678.1:g.56643343G>C | GRCh37 |
| NC_000016.8:g.55200844G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245185.6:c.*77G>C MANE Select | ENSP00000245185.5:n.*77G>C | |
| ENST00000245185.5:c.*77G>C | ENSP00000245185.5:n.*77G>C | |
| ENST00000561491.1:c.*246G>C | ENSP00000456804.1:n.*246G>C | |
| ENST00000562017.1:n.837G>C | ||
| ENST00000563985.1:n.643G>C | ||
| ENST00000567300.1:n.350G>C | ||
| NM_005953.3:c.*77G>C | NP_005944.1:n.*77G>C | |
| XR_933616.1:n.1059C>G | ||
| NM_005953.4:c.*77G>C | NP_005944.1:n.*77G>C | |
| NM_005953.5:c.*77G>C MANE Select | NP_005944.1:n.*77G>C |