Linked Data
ClinVar Variation Id:
420780
ClinVar RCV Id:
RCV000482357
dbSNP Id:
rs1064794696
gnomAD v4:
7-70118235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70118235T>C , CM000669.2:g.70118235T>C | GRCh38 |
| NC_000007.13:g.69583221T>C , CM000669.1:g.69583221T>C | GRCh37 |
| NC_000007.12:g.69221157T>C | NCBI36 |
| NG_034133.1:g.524317T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.624+2T>C MANE Select | ENSP00000344087.4:n.624+2T>C | |
| ENST00000403018.3:c.624+2T>C | ENSP00000385572.2:n.624+2T>C | |
| ENST00000476695.2:n.479+2T>C | ||
| ENST00000643587.1:c.123+2T>C | ENSP00000494680.1:n.123+2T>C | |
| ENST00000643936.1:c.405T>C | ||
| ENST00000644939.1:c.624+2T>C | ENSP00000496726.1:n.624+2T>C | |
| ENST00000656998.1:c.387+2T>C | ENSP00000499769.1:n.387+2T>C | |
| ENST00000664521.1:c.150+2T>C | ENSP00000499733.1:n.150+2T>C | |
| ENST00000342771.8:c.624+2T>C | ENSP00000344087.4:n.624+2T>C | |
| ENST00000403018.2:c.624+2T>C | ENSP00000385572.2:n.624+2T>C | |
| ENST00000406775.6:c.624+2T>C | ENSP00000385263.2:n.624+2T>C | |
| ENST00000476695.1:n.473+2T>C | ||
| NM_001127231.2:c.624+2T>C | NP_001120703.1:n.624+2T>C | |
| NM_001127232.2:c.624+2T>C | NP_001120704.1:n.624+2T>C | |
| NM_015570.3:c.624+2T>C | NP_056385.1:n.624+2T>C | |
| XM_011516010.1:c.624+2T>C | XP_011514312.1:n.624+2T>C | |
| XM_011516011.1:c.624+2T>C | XP_011514313.1:n.624+2T>C | |
| XM_011516012.1:c.624+2T>C | XP_011514314.1:n.624+2T>C | |
| XM_011516013.1:c.624+2T>C | XP_011514315.1:n.624+2T>C | |
| XM_011516014.1:c.624+2T>C | XP_011514316.1:n.624+2T>C | |
| XM_011516015.1:c.624+2T>C | XP_011514317.1:n.624+2T>C | |
| XM_011516016.1:c.333+2T>C | XP_011514318.1:n.333+2T>C | |
| XM_011516017.1:c.150+2T>C | XP_011514319.1:n.150+2T>C | |
| XM_011516018.1:c.123+2T>C | XP_011514320.1:n.123+2T>C | |
| XM_011516010.2:c.624+2T>C | XP_011514312.1:n.624+2T>C | |
| XM_011516011.2:c.624+2T>C | XP_011514313.1:n.624+2T>C | |
| XM_011516012.2:c.624+2T>C | XP_011514314.1:n.624+2T>C | |
| XM_011516013.2:c.624+2T>C | XP_011514315.1:n.624+2T>C | |
| XM_011516014.2:c.624+2T>C | XP_011514316.1:n.624+2T>C | |
| XM_011516017.2:c.150+2T>C | XP_011514319.1:n.150+2T>C | |
| XM_011516018.2:c.123+2T>C | XP_011514320.1:n.123+2T>C | |
| XM_017011951.2:c.624+2T>C | XP_016867440.1:n.624+2T>C | |
| NM_001127231.3:c.624+2T>C | NP_001120703.1:n.624+2T>C | |
| NM_001127232.3:c.624+2T>C | NP_001120704.1:n.624+2T>C | |
| NM_015570.4:c.624+2T>C MANE Select | NP_056385.1:n.624+2T>C |