Linked Data
dbSNP Id:
rs549473233
ExAC:
8:37823205 G / A
gnomAD v2:
8-37823205-G-A
gnomAD v3:
8-37965687-G-A
gnomAD v4:
8-37965687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965687G>A , CM000670.2:g.37965687G>A | GRCh38 |
| NC_000008.10:g.37823205G>A , CM000670.1:g.37823205G>A | GRCh37 |
| NC_000008.9:g.37942362G>A | NCBI36 |
| NG_011936.1:g.5980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.783C>T MANE Select | ENSP00000343782.3:p.Ala261= | |
| ENST00000520341.2:n.911C>T | ||
| ENST00000647937.1:c.267C>T | ENSP00000497740.1:p.Ala89= | |
| ENST00000345060.4:c.783C>T | ENSP00000343782.3:p.Ala261= | |
| ENST00000520341.1:n.58C>T | ||
| ENST00000614635.1:c.783C>T | ENSP00000480325.1:p.Ala261= | |
| NM_000025.2:c.783C>T | NP_000016.1:p.Ala261= | |
| NM_000025.3:c.783C>T MANE Select | NP_000016.1:p.Ala261= |