Linked Data
ClinVar Variation Id:
742331
ClinVar RCV Id:
RCV000918578
dbSNP Id:
rs138176193
ExAC:
4:1817523 G / A
gnomAD v2:
4-1817523-G-A
gnomAD v3:
4-1815796-G-A
gnomAD v4:
4-1815796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1815796G>A , CM000666.2:g.1815796G>A | GRCh38 |
| NC_000004.11:g.1817523G>A , CM000666.1:g.1817523G>A | GRCh37 |
| NC_000004.10:g.1787321G>A | NCBI36 |
| NG_013063.1:g.45452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1938C>T MANE Select | ENSP00000305653.2:p.Asn646= | |
| ENST00000302787.2:c.1938C>T | ENSP00000305653.2:p.Asn646= | |
| NM_012318.2:c.1938C>T | NP_036450.1:p.Asn646= | |
| XM_005247970.3:c.1023C>T | XP_005248027.1:p.Asn341= | |
| XM_006713884.1:c.1935C>T | XP_006713947.1:p.Asn645= | |
| NM_012318.3:c.1938C>T MANE Select | NP_036450.1:p.Asn646= |