Linked Data
dbSNP Id:
rs368300047
gnomAD v2:
11-100905300-C-T
gnomAD v3:
11-101034569-C-T
gnomAD v4:
11-101034569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101034569C>T , CM000673.2:g.101034569C>T | GRCh38 |
| NC_000011.9:g.100905300C>T , CM000673.1:g.100905300C>T | GRCh37 |
| NC_000011.8:g.100410510C>T | NCBI36 |
| NG_016475.1:g.100245G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325455.10:c.*4547G>A MANE Select | ENSP00000325120.5:n.*4547G>A | |
| ENST00000325455.9:c.*4547G>A | ENSP00000325120.5:n.*4547G>A | |
| NM_000926.4:c.*4547G>A MANE Select | NP_000917.3:n.*4547G>A | |
| NM_001202474.3:c.*4547G>A | NP_001189403.1:n.*4547G>A | |
| NM_001271161.2:c.*4547G>A | NP_001258090.1:n.*4547G>A | |
| NM_001271162.1:c.*4547G>A | NP_001258091.1:n.*4547G>A | |
| NR_073141.2:n.7290G>A | ||
| NR_073142.2:n.7173G>A | ||
| NR_073143.2:n.6905G>A | ||
| NM_001271162.2:c.*4547G>A | NP_001258091.1:n.*4547G>A | |
| NR_073141.3:n.7304G>A | ||
| NR_073142.3:n.7187G>A | ||
| NR_073143.3:n.6919G>A |