Linked Data
dbSNP Id:
rs4143815
gnomAD v2:
9-5468257-G-C
gnomAD v3:
9-5468257-G-C
gnomAD v4:
9-5468257-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5468257G>C , CM000671.2:g.5468257G>C | GRCh38 |
| NC_000009.11:g.5468257G>C , CM000671.1:g.5468257G>C | GRCh37 |
| NC_000009.10:g.5458257G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381577.4:c.*395G>C MANE Select | ENSP00000370989.3:n.*395G>C | |
| ENST00000381573.8:c.*395G>C | ENSP00000370985.4:n.*395G>C | |
| ENST00000381577.3:c.*395G>C | ENSP00000370989.3:n.*395G>C | |
| NM_001267706.1:c.*395G>C | NP_001254635.1:n.*395G>C | |
| NM_014143.3:c.*395G>C | NP_054862.1:n.*395G>C | |
| NR_052005.1:n.1203G>C | ||
| NM_014143.4:c.*395G>C MANE Select | NP_054862.1:n.*395G>C | |
| NR_052005.2:n.1164G>C | ||
| NM_001267706.2:c.*395G>C | NP_001254635.1:n.*395G>C |