Linked Data
dbSNP Id:
rs763253954
ExAC:
5:127666340 G / A
gnomAD v2:
5-127666340-G-A
gnomAD v4:
5-128330648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330648G>A , CM000667.2:g.128330648G>A | GRCh38 |
| NC_000005.9:g.127666340G>A , CM000667.1:g.127666340G>A | GRCh37 |
| NC_000005.8:g.127694239G>A | NCBI36 |
| NG_008750.1:g.212396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1054C>T | ||
| ENST00000703785.1:n.1135C>T | ||
| ENST00000262464.9:c.4270C>T MANE Select | ENSP00000262464.4:p.Gln1424Ter | |
| ENST00000262464.8:c.4270C>T | ENSP00000262464.4:p.Gln1424Ter | |
| ENST00000507835.5:c.820C>T | ENSP00000426839.1:p.Gln274Ter | |
| ENST00000508053.5:c.4270C>T | ENSP00000424571.1:p.Gln1424Ter | |
| ENST00000508989.5:c.4171C>T | ENSP00000425596.1:p.Gln1391Ter | |
| ENST00000619499.4:c.4267C>T | ENSP00000482132.1:p.Gln1423Ter | |
| NM_001999.3:c.4270C>T | NP_001990.2:p.Gln1424Ter | |
| XM_017009228.2:c.4117C>T | XP_016864717.1:p.Gln1373Ter | |
| NM_001999.4:c.4270C>T MANE Select | NP_001990.2:p.Gln1424Ter |