Linked Data
dbSNP Id:
rs1126510
gnomAD v2:
19-47123783-A-G
gnomAD v3:
19-46620526-A-G
gnomAD v4:
19-46620526-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46620526A>G , CM000681.2:g.46620526A>G | GRCh38 |
| NC_000019.9:g.47123783A>G , CM000681.1:g.47123783A>G | GRCh37 |
| NC_000019.8:g.51815623A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291294.7:c.*754T>C MANE Select | ENSP00000291294.1:n.*754T>C | |
| ENST00000291294.6:c.*754T>C | ENSP00000291294.1:n.*754T>C | |
| NM_000960.3:c.*754T>C | NP_000951.1:n.*754T>C | |
| XM_005259093.2:c.*1595T>C | XP_005259150.1:n.*1595T>C | |
| XR_243945.2:n.902+2932T>C | ||
| XR_430206.2:n.902+2932T>C | ||
| XR_935844.1:n.902+2932T>C | ||
| XM_005259093.3:c.*1595T>C | XP_005259150.1:n.*1595T>C | |
| XM_005259095.4:c.*1103T>C | XP_005259152.1:n.*1103T>C | |
| XR_243945.3:n.876+2932T>C | ||
| XR_430206.3:n.876+2932T>C | ||
| XR_935844.2:n.876+2932T>C | ||
| NM_000960.4:c.*754T>C MANE Select | NP_000951.1:n.*754T>C |