Linked Data
ClinVar Variation Id:
2500760
ClinVar RCV Id:
RCV003225672
dbSNP Id:
rs1353464242
gnomAD v2:
17-1639418-G-T
gnomAD v4:
17-1736124-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1736124G>T , CM000679.2:g.1736124G>T | GRCh38 |
| NC_000017.10:g.1639418G>T , CM000679.1:g.1639418G>T | GRCh37 |
| NC_000017.9:g.1586168G>T | NCBI36 |
| NG_032811.1:g.24602G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.5411G>T MANE Select | ENSP00000386609.1:p.Gly1804Val | |
| ENST00000309182.9:c.2258G>T | ENSP00000312074.5:p.Gly753Val | |
| ENST00000409644.5:c.5411G>T | ENSP00000386609.1:p.Gly1804Val | |
| ENST00000419248.5:c.1730G>T | ENSP00000407845.1:p.Gly577Val | |
| ENST00000437219.6:c.1802G>T | ENSP00000391074.2:p.Gly601Val | |
| ENST00000446363.5:c.1328G>T | ENSP00000401560.1:p.Gly443Val | |
| ENST00000464528.5:n.3118G>T | ||
| NM_001163673.1:c.1802G>T | NP_001157145.1:p.Gly601Val | |
| NM_001163809.1:c.5411G>T | NP_001157281.1:p.Gly1804Val | |
| NM_001163811.1:c.1730G>T | NP_001157283.1:p.Gly577Val | |
| NM_152348.3:c.2258G>T | NP_689561.2:p.Gly753Val | |
| XM_011523651.1:c.2258G>T | XP_011521953.1:p.Gly753Val | |
| XM_011523651.2:c.2258G>T | XP_011521953.1:p.Gly753Val | |
| XM_017024184.1:c.5326-12G>T | XP_016879673.1:n.5326-12G>T | |
| XR_001752427.1:n.5577G>T | ||
| XR_933973.2:n.5508G>T | ||
| NM_001163809.2:c.5411G>T MANE Select | NP_001157281.1:p.Gly1804Val | |
| NM_001163811.2:c.1730G>T | NP_001157283.1:p.Gly577Val | |
| NM_152348.4:c.2258G>T | NP_689561.2:p.Gly753Val | |
| NM_001163673.2:c.1802G>T | NP_001157145.1:p.Gly601Val |