Linked Data
ClinVar Variation Id:
385344
ClinVar RCV Id:
RCV001720238
dbSNP Id:
rs750559514
ExAC:
5:127671244 G / A
gnomAD v2:
5-127671244-G-A
gnomAD v3:
5-128335552-G-A
gnomAD v4:
5-128335552-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335552G>A , CM000667.2:g.128335552G>A | GRCh38 |
| NC_000005.9:g.127671244G>A , CM000667.1:g.127671244G>A | GRCh37 |
| NC_000005.8:g.127699143G>A | NCBI36 |
| NG_008750.1:g.207492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.534C>T | ||
| ENST00000703785.1:n.615C>T | ||
| ENST00000262464.9:c.3750C>T MANE Select | ENSP00000262464.4:p.Asn1250= | |
| ENST00000262464.8:c.3750C>T | ENSP00000262464.4:p.Asn1250= | |
| ENST00000507835.5:c.300C>T | ENSP00000426839.1:p.Asn100= | |
| ENST00000508053.5:c.3750C>T | ENSP00000424571.1:p.Asn1250= | |
| ENST00000508989.5:c.3651C>T | ENSP00000425596.1:p.Asn1217= | |
| ENST00000619499.4:c.3747C>T | ENSP00000482132.1:p.Asn1249= | |
| NM_001999.3:c.3750C>T | NP_001990.2:p.Asn1250= | |
| XM_017009228.2:c.3597C>T | XP_016864717.1:p.Asn1199= | |
| NM_001999.4:c.3750C>T MANE Select | NP_001990.2:p.Asn1250= |