Linked Data
dbSNP Id:
rs734930
gnomAD v2:
7-70020160-T-C
gnomAD v3:
7-70555174-T-C
gnomAD v4:
7-70555174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70555174T>C , CM000669.2:g.70555174T>C | GRCh38 |
| NC_000007.13:g.70020160T>C , CM000669.1:g.70020160T>C | GRCh37 |
| NC_000007.12:g.69658096T>C | NCBI36 |
| NG_034133.1:g.961256T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.690+119393T>C MANE Select | ENSP00000344087.4:n.690+119393T>C | |
| ENST00000644939.1:c.690+119393T>C | ENSP00000496726.1:n.690+119393T>C | |
| ENST00000342771.8:c.690+119393T>C | ENSP00000344087.4:n.690+119393T>C | |
| ENST00000406775.6:c.690+119393T>C | ENSP00000385263.2:n.690+119393T>C | |
| NM_001127231.2:c.690+119393T>C | NP_001120703.1:n.690+119393T>C | |
| NM_015570.3:c.690+119393T>C | NP_056385.1:n.690+119393T>C | |
| XM_011516010.1:c.690+119393T>C | XP_011514312.1:n.690+119393T>C | |
| XM_011516011.1:c.690+119393T>C | XP_011514313.1:n.690+119393T>C | |
| XM_011516012.1:c.690+119393T>C | XP_011514314.1:n.690+119393T>C | |
| XM_011516013.1:c.690+119393T>C | XP_011514315.1:n.690+119393T>C | |
| XM_011516014.1:c.690+119393T>C | XP_011514316.1:n.690+119393T>C | |
| XM_011516015.1:c.690+119393T>C | XP_011514317.1:n.690+119393T>C | |
| XM_011516016.1:c.399+119393T>C | XP_011514318.1:n.399+119393T>C | |
| XM_011516017.1:c.216+119393T>C | XP_011514319.1:n.216+119393T>C | |
| XM_011516018.1:c.189+119393T>C | XP_011514320.1:n.189+119393T>C | |
| XM_011516010.2:c.690+119393T>C | XP_011514312.1:n.690+119393T>C | |
| XM_011516011.2:c.690+119393T>C | XP_011514313.1:n.690+119393T>C | |
| XM_011516012.2:c.690+119393T>C | XP_011514314.1:n.690+119393T>C | |
| XM_011516013.2:c.690+119393T>C | XP_011514315.1:n.690+119393T>C | |
| XM_011516014.2:c.690+119393T>C | XP_011514316.1:n.690+119393T>C | |
| XM_011516017.2:c.216+119393T>C | XP_011514319.1:n.216+119393T>C | |
| XM_011516018.2:c.189+119393T>C | XP_011514320.1:n.189+119393T>C | |
| XM_017011951.2:c.690+119393T>C | XP_016867440.1:n.690+119393T>C | |
| NM_001127231.3:c.690+119393T>C | NP_001120703.1:n.690+119393T>C | |
| NM_015570.4:c.690+119393T>C MANE Select | NP_056385.1:n.690+119393T>C |