Linked Data
ClinVar Variation Id:
264225
dbSNP Id:
rs766004910
ExAC:
5:127730852 G / A
gnomAD v2:
5-127730852-G-A
gnomAD v3:
5-128395159-G-A
gnomAD v4:
5-128395159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395159G>A , CM000667.2:g.128395159G>A | GRCh38 |
| NC_000005.9:g.127730852G>A , CM000667.1:g.127730852G>A | GRCh37 |
| NC_000005.8:g.127758751G>A | NCBI36 |
| NG_008750.1:g.147884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.901C>T | ||
| ENST00000262464.9:c.1194C>T MANE Select | ENSP00000262464.4:p.Ile398= | |
| ENST00000262464.8:c.1194C>T | ENSP00000262464.4:p.Ile398= | |
| ENST00000508053.5:c.1194C>T | ENSP00000424571.1:p.Ile398= | |
| ENST00000508989.5:c.1095C>T | ENSP00000425596.1:p.Ile365= | |
| ENST00000619499.4:c.1191C>T | ENSP00000482132.1:p.Ile397= | |
| NM_001999.3:c.1194C>T | NP_001990.2:p.Ile398= | |
| XM_017009228.2:c.1079-1791C>T | XP_016864717.1:n.1079-1791C>T | |
| NM_001999.4:c.1194C>T MANE Select | NP_001990.2:p.Ile398= |