Linked Data
dbSNP Id:
rs6805118
gnomAD v2:
3-142216916-C-T
gnomAD v3:
3-142498074-C-T
gnomAD v4:
3-142498074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142498074C>T , CM000665.2:g.142498074C>T | GRCh38 |
| NC_000003.11:g.142216916C>T , CM000665.1:g.142216916C>T | GRCh37 |
| NC_000003.10:g.143699606C>T | NCBI36 |
| NG_008951.1:g.85753G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.5558+523G>A MANE Select | ENSP00000343741.4:n.5558+523G>A | |
| ENST00000513291.2:n.742+523G>A | ||
| ENST00000653868.1:n.5587+523G>A | ||
| ENST00000656590.1:c.4348+523G>A | ||
| ENST00000661310.1:c.5366+523G>A | ENSP00000499589.1:n.5366+523G>A | |
| ENST00000666943.1:n.1022+523G>A | ||
| ENST00000350721.8:c.5558+523G>A | ENSP00000343741.4:n.5558+523G>A | |
| ENST00000507620.2:n.654+523G>A | ||
| ENST00000514393.5:n.241+523G>A | ||
| NM_001184.3:c.5558+523G>A | NP_001175.2:n.5558+523G>A | |
| XM_011512924.1:c.5564+523G>A | XP_011511226.1:n.5564+523G>A | |
| XM_011512925.1:c.5372+523G>A | XP_011511227.1:n.5372+523G>A | |
| XM_011512926.1:c.5564+523G>A | XP_011511228.1:n.5564+523G>A | |
| XM_011512927.1:c.5564+523G>A | XP_011511229.1:n.5564+523G>A | |
| XR_924147.1:n.5653+523G>A | ||
| XR_924148.1:n.5653+523G>A | ||
| XR_924149.1:n.5653+523G>A | ||
| NM_001354579.1:c.5366+523G>A | NP_001341508.1:n.5366+523G>A | |
| XR_001740179.2:n.5647+523G>A | ||
| XR_001740180.2:n.5653+523G>A | ||
| XR_001740181.2:n.5653+523G>A | ||
| XR_001740182.1:n.5653+523G>A | ||
| XR_002959543.1:n.5653+523G>A | ||
| XR_924148.2:n.5653+523G>A | ||
| NM_001184.4:c.5558+523G>A MANE Select | NP_001175.2:n.5558+523G>A | |
| NM_001354579.2:c.5366+523G>A | NP_001341508.1:n.5366+523G>A |