Linked Data
ClinVar Variation Id:
668508
dbSNP Id:
rs1184212049
gnomAD v3:
5-161294300-C-T
gnomAD v4:
5-161294300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161294300C>T , CM000667.2:g.161294300C>T | GRCh38 |
| NC_000005.9:g.160721307C>T , CM000667.1:g.160721307C>T | GRCh37 |
| NC_000005.8:g.160653885C>T | NCBI36 |
| NG_047050.1:g.258825G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.1320G>A | ENSP00000274547.2:p.Gln440= | |
| ENST00000393959.6:c.1320G>A MANE Select | ENSP00000377531.1:p.Gln440= | |
| ENST00000675081.1:c.*665G>A | ENSP00000502207.1:n.*665G>A | |
| ENST00000675303.1:c.1206G>A | ENSP00000502748.1:p.Gln402= | |
| ENST00000675381.1:c.954G>A | ENSP00000501968.1:p.Gln318= | |
| ENST00000675746.1:c.456G>A | ENSP00000502391.1:p.Gln152= | |
| ENST00000675773.1:c.1206G>A | ENSP00000502701.1:p.Gln402= | |
| ENST00000274547.6:c.1320G>A | ENSP00000274547.2:p.Gln440= | |
| ENST00000353437.10:c.1206G>A | ENSP00000274546.6:p.Gln402= | |
| ENST00000393959.5:c.1320G>A | ENSP00000377531.1:p.Gln440= | |
| ENST00000517547.5:c.726G>A | ENSP00000429750.1:p.Gln242= | |
| ENST00000517901.5:c.1017G>A | ENSP00000430532.1:p.Gln339= | |
| ENST00000520240.5:c.1206G>A | ENSP00000429320.1:p.Gln402= | |
| NM_000813.2:c.1206G>A | NP_000804.1:p.Gln402= | |
| NM_021911.2:c.1320G>A | NP_068711.1:p.Gln440= | |
| XM_011534501.1:c.570G>A | XP_011532803.1:p.Gln190= | |
| NM_000813.3:c.1206G>A | NP_000804.1:p.Gln402= | |
| NM_001371727.1:c.1320G>A MANE Select | NP_001358656.1:p.Gln440= | |
| NM_021911.3:c.1320G>A | NP_068711.1:p.Gln440= |