Linked Data
ClinVar Variation Id:
327738
dbSNP Id:
rs117028614
ExAC:
18:60052034 A / G
gnomAD v2:
18-60052034-A-G
gnomAD v3:
18-62384801-A-G
gnomAD v4:
18-62384801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62384801A>G , CM000680.2:g.62384801A>G | GRCh38 |
| NC_000018.9:g.60052034A>G , CM000680.1:g.60052034A>G | GRCh37 |
| NC_000018.8:g.58203014A>G | NCBI36 |
| NG_008098.1:g.64487A>G , LRG_194:g.64487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586569.3:c.1618A>G MANE Select | ENSP00000465500.1:p.Met540Val | |
| ENST00000269485.11:c.667A>G | ENSP00000269485.7:p.Met223Val | |
| ENST00000586569.2:c.1618A>G | ENSP00000465500.1:p.Met540Val | |
| ENST00000616710.4:c.*42A>G | ENSP00000479567.1:n.*42A>G | |
| ENST00000617039.4:c.781A>G | ENSP00000482466.1:p.Met261Val | |
| NM_001270949.1:c.*42A>G | NP_001257878.1:n.*42A>G | |
| NM_001270950.1:c.781A>G | NP_001257879.1:p.Met261Val | |
| NM_001270951.1:c.667A>G | NP_001257880.1:p.Met223Val | |
| NM_001278268.1:c.1576A>G | NP_001265197.1:p.Met526Val | |
| NM_003839.3:c.1618A>G | NP_003830.1:p.Met540Val | |
| XM_011526244.1:c.1633A>G | XP_011524546.1:p.Met545Val | |
| XM_011526245.1:c.1510A>G | XP_011524547.1:p.Met504Val | |
| XR_935263.1:n.1796A>G | ||
| XM_011526244.2:c.1633A>G | XP_011524546.1:p.Met545Val | |
| XM_011526245.2:c.1510A>G | XP_011524547.1:p.Met504Val | |
| XM_017026064.1:c.1510A>G | XP_016881553.1:p.Met504Val | |
| XM_017026065.1:c.1468A>G | XP_016881554.1:p.Met490Val | |
| XM_017026066.1:c.1408A>G | XP_016881555.1:p.Met470Val | |
| NM_003839.4:c.1618A>G MANE Select | NP_003830.1:p.Met540Val | |
| NM_001270951.2:c.667A>G | NP_001257880.1:p.Met223Val | |
| NM_001278268.2:c.1576A>G | NP_001265197.1:p.Met526Val | |
| NM_001270949.2:c.*42A>G | NP_001257878.1:n.*42A>G | |
| NM_001270950.2:c.781A>G | NP_001257879.1:p.Met261Val |