Linked Data
ClinVar Variation Id:
261056
dbSNP Id:
rs782460743
ExAC:
7:130040067 C / T
gnomAD v2:
7-130040067-C-T
gnomAD v3:
7-130400226-C-T
gnomAD v4:
7-130400226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130400226C>T , CM000669.2:g.130400226C>T | GRCh38 |
| NC_000007.13:g.130040067C>T , CM000669.1:g.130040067C>T | GRCh37 |
| NC_000007.12:g.129827303C>T | NCBI36 |
| NG_032164.1:g.45985G>A | |
| NG_032164.2:g.45985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.786G>A MANE Select | ENSP00000223208.4:p.Pro262= | |
| ENST00000343969.10:c.766+472G>A | ENSP00000342738.6:n.766+472G>A | |
| ENST00000480206.2:c.*299G>A | ENSP00000502099.1:n.*299G>A | |
| ENST00000484549.6:c.*958G>A | ENSP00000419078.2:n.*958G>A | |
| ENST00000492389.6:c.777+481G>A | ENSP00000419192.2:n.777+481G>A | |
| ENST00000541543.6:c.777G>A | ENSP00000445888.2:p.Pro259= | |
| ENST00000674539.1:c.423-1187G>A | ENSP00000502834.1:n.423-1187G>A | |
| ENST00000674630.1:c.*332G>A | ENSP00000502521.1:n.*332G>A | |
| ENST00000675138.1:c.831G>A | ENSP00000501597.1:p.Pro277= | |
| ENST00000675168.1:c.738G>A | ENSP00000501563.1:p.Pro246= | |
| ENST00000675328.1:n.596G>A | ||
| ENST00000675542.1:n.751G>A | ||
| ENST00000675563.1:c.177G>A | ENSP00000502483.1:p.Pro59= | |
| ENST00000675596.1:c.757+481G>A | ENSP00000501735.1:n.757+481G>A | |
| ENST00000675649.1:c.603G>A | ENSP00000502385.1:p.Pro201= | |
| ENST00000675721.1:c.*729G>A | ENSP00000502026.1:n.*729G>A | |
| ENST00000675803.1:c.747G>A | ENSP00000502477.1:p.Pro249= | |
| ENST00000675813.1:c.*690G>A | ENSP00000502785.1:n.*690G>A | |
| ENST00000675935.1:c.777G>A | ENSP00000501731.1:p.Pro259= | |
| ENST00000675962.1:c.709+481G>A | ENSP00000502478.1:n.709+481G>A | |
| ENST00000676115.1:c.*707G>A | ENSP00000502631.1:n.*707G>A | |
| ENST00000676243.1:c.795G>A | ENSP00000501717.1:p.Pro265= | |
| ENST00000676312.1:c.747G>A | ENSP00000502312.1:p.Pro249= | |
| ENST00000223208.9:c.786G>A | ENSP00000223208.4:p.Pro262= | |
| ENST00000343969.9:c.757+481G>A | ENSP00000342738.5:n.757+481G>A | |
| ENST00000484549.5:c.*332G>A | ENSP00000419078.1:n.*332G>A | |
| ENST00000485736.5:n.469G>A | ||
| ENST00000541543.5:c.709+481G>A | ENSP00000445888.1:n.709+481G>A | |
| ENST00000603513.1:n.984G>A | ||
| NM_001257158.1:c.757+481G>A | NP_001244087.1:n.757+481G>A | |
| NM_001257159.1:c.709+481G>A | NP_001244088.1:n.709+481G>A | |
| NM_018718.2:c.786G>A | NP_061188.1:p.Pro262= | |
| NR_046443.1:n.954G>A | ||
| XM_011516708.1:c.831G>A | XP_011515010.1:p.Pro277= | |
| XM_011516709.1:c.681G>A | XP_011515011.1:p.Pro227= | |
| XM_011516710.1:c.681G>A | XP_011515012.1:p.Pro227= | |
| XM_011516711.1:c.681G>A | XP_011515013.1:p.Pro227= | |
| XM_011516712.1:c.802+481G>A | XP_011515014.1:n.802+481G>A | |
| XM_011516709.3:c.681G>A | XP_011515011.1:p.Pro227= | |
| XM_011516710.3:c.681G>A | XP_011515012.1:p.Pro227= | |
| XM_024447004.1:c.747G>A | XP_024302772.1:p.Pro249= | |
| NM_018718.3:c.786G>A MANE Select | NP_061188.1:p.Pro262= | |
| NM_001257158.2:c.757+481G>A | NP_001244087.1:n.757+481G>A | |
| NR_046443.2:n.760G>A | ||
| NM_001257159.2:c.709+481G>A | NP_001244088.1:n.709+481G>A |