Linked Data
dbSNP Id:
rs755033429
ExAC:
5:177420057 G / A
gnomAD v2:
5-177420057-G-A
gnomAD v3:
5-177993056-G-A
gnomAD v4:
5-177993056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993056G>A , CM000667.2:g.177993056G>A | GRCh38 |
| NC_000005.9:g.177420057G>A , CM000667.1:g.177420057G>A | GRCh37 |
| NC_000005.8:g.177352663G>A | NCBI36 |
| NG_015889.1:g.8187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-9C>T MANE Select | ENSP00000311290.2:n.343-9C>T | |
| NM_006261.4:c.343-9C>T | NP_006252.3:n.343-9C>T | |
| NM_006261.5:c.343-9C>T MANE Select | NP_006252.4:n.343-9C>T |