Linked Data
dbSNP Id:
rs11249006
gnomAD v2:
1-24482474-G-A
gnomAD v3:
1-24155984-G-A
gnomAD v4:
1-24155984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24155984G>A , CM000663.2:g.24155984G>A | GRCh38 |
| NC_000001.10:g.24482474G>A , CM000663.1:g.24482474G>A | GRCh37 |
| NC_000001.9:g.24355061G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327535.6:c.*1146C>T MANE Select | ENSP00000327824.1:n.*1146C>T | |
| ENST00000327535.5:c.*1146C>T | ENSP00000327824.1:n.*1146C>T | |
| NM_170743.3:c.*1146C>T | NP_734464.1:n.*1146C>T | |
| NM_173064.2:c.*1146C>T | NP_775087.1:n.*1146C>T | |
| NM_173065.2:c.*1843C>T | NP_775088.1:n.*1843C>T | |
| XM_006710394.2:c.*1146C>T | XP_006710457.2:n.*1146C>T | |
| XM_006710394.4:c.*1146C>T | XP_006710457.2:n.*1146C>T | |
| XM_017000479.1:c.*1146C>T | XP_016855968.1:n.*1146C>T | |
| XM_024453668.1:c.*1146C>T | XP_024309436.1:n.*1146C>T | |
| NM_170743.4:c.*1146C>T MANE Select | NP_734464.1:n.*1146C>T | |
| NM_173064.3:c.*1146C>T | NP_775087.1:n.*1146C>T | |
| NM_173065.3:c.*1843C>T | NP_775088.1:n.*1843C>T |