Linked Data
dbSNP Id:
rs4808801
gnomAD v2:
19-18571141-A-G
gnomAD v3:
19-18460331-A-G
gnomAD v4:
19-18460331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18460331A>G , CM000681.2:g.18460331A>G | GRCh38 |
| NC_000019.9:g.18571141A>G , CM000681.1:g.18571141A>G | GRCh37 |
| NC_000019.8:g.18432141A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262809.9:c.744+1247T>C MANE Select | ENSP00000262809.3:n.744+1247T>C | |
| ENST00000262809.8:c.744+1247T>C | ENSP00000262809.3:n.744+1247T>C | |
| ENST00000594635.6:c.*579+1247T>C | ENSP00000475681.2:n.*579+1247T>C | |
| ENST00000596124.3:c.345+1247T>C | ENSP00000475648.2:n.345+1247T>C | |
| NM_006532.3:c.744+1247T>C | NP_006523.1:n.744+1247T>C | |
| XM_011528330.1:c.744+1247T>C | XP_011526632.1:n.744+1247T>C | |
| XR_936207.1:n.818+1247T>C | ||
| XM_011528330.3:c.744+1247T>C | XP_011526632.2:n.744+1247T>C | |
| XM_017027335.1:c.345+1247T>C | XP_016882824.1:n.345+1247T>C | |
| XM_017027336.1:c.-10+674T>C | XP_016882825.1:n.-10+674T>C | |
| XM_017027337.2:c.17+1247T>C | XP_016882826.1:n.17+1247T>C | |
| XR_001753769.2:n.749+1247T>C | ||
| XR_936207.3:n.749+1247T>C | ||
| NM_006532.4:c.744+1247T>C MANE Select | NP_006523.1:n.744+1247T>C |