Linked Data
ClinVar Variation Id:
92022
ClinVar RCV Id:
RCV000122579
dbSNP Id:
rs386352378
ExAC:
2:37014392 G / T
gnomAD v2:
2-37014392-G-T
gnomAD v4:
2-36787249-G-T
COSMIC:
COSM1020619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.36787249G>T , CM000664.2:g.36787249G>T | GRCh38 |
| NC_000002.11:g.37014392G>T , CM000664.1:g.37014392G>T | GRCh37 |
| NC_000002.10:g.36867896G>T | NCBI36 |
| NG_050963.1:g.95565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379242.8:c.1031G>T MANE Select | ENSP00000368544.3:p.Gly344Val | |
| ENST00000379241.7:c.920G>T | ENSP00000368543.3:p.Gly307Val | |
| ENST00000379242.7:c.1031G>T | ENSP00000368544.3:p.Gly344Val | |
| ENST00000389975.7:c.986G>T | ENSP00000374625.3:p.Gly329Val | |
| ENST00000401530.5:c.923G>T | ENSP00000385658.1:p.Gly308Val | |
| ENST00000404084.5:c.842G>T | ENSP00000384154.1:p.Gly281Val | |
| ENST00000464309.1:c.286G>T | ||
| ENST00000497382.5:c.-8G>T | ENSP00000417874.1:n.-8G>T | |
| NM_001177969.1:c.986G>T | NP_001171440.1:p.Gly329Val | |
| NM_001177970.1:c.923G>T | NP_001171441.1:p.Gly308Val | |
| NM_001177971.1:c.920G>T | NP_001171442.1:p.Gly307Val | |
| NM_053276.3:c.1031G>T | NP_444506.2:p.Gly344Val | |
| XM_011532905.1:c.839G>T | XP_011531207.1:p.Gly280Val | |
| XM_011532906.1:c.728G>T | XP_011531208.1:p.Gly243Val | |
| NM_001328661.1:c.965G>T | NP_001315590.1:p.Gly322Val | |
| XM_011532905.2:c.839G>T | XP_011531207.1:p.Gly280Val | |
| XM_011532906.2:c.728G>T | XP_011531208.1:p.Gly243Val | |
| XM_017004326.2:c.773G>T | XP_016859815.1:p.Gly258Val | |
| XM_017004327.1:c.479G>T | XP_016859816.1:p.Gly160Val | |
| XM_017004328.1:c.224G>T | XP_016859817.1:p.Gly75Val | |
| NM_001177970.2:c.923G>T | NP_001171441.1:p.Gly308Val | |
| NM_001177971.2:c.920G>T | NP_001171442.1:p.Gly307Val | |
| NM_001328661.2:c.965G>T | NP_001315590.1:p.Gly322Val | |
| NM_053276.4:c.1031G>T MANE Select | NP_444506.2:p.Gly344Val | |
| NM_001177969.2:c.986G>T | NP_001171440.1:p.Gly329Val | |
| NM_001391966.1:c.839G>T | NP_001378895.1:p.Gly280Val | |
| NM_001391967.1:c.839G>T | NP_001378896.1:p.Gly280Val | |
| NM_001391968.1:c.794G>T | NP_001378897.1:p.Gly265Val | |
| NM_001391969.1:c.773G>T | NP_001378898.1:p.Gly258Val |