Linked Data
ClinVar Variation Id:
3059329
ClinVar RCV Id:
RCV003974300
dbSNP Id:
rs3924999
ExAC:
8:32453358 G / A
gnomAD v2:
8-32453358-G-A
gnomAD v3:
8-32595840-G-A
gnomAD v4:
8-32595840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.32595840G>A , CM000670.2:g.32595840G>A | GRCh38 |
| NC_000008.10:g.32453358G>A , CM000670.1:g.32453358G>A | GRCh37 |
| NC_000008.9:g.32572900G>A | NCBI36 |
| NG_012005.1:g.961091G>A | |
| NG_012005.2:g.961619G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405005.8:c.113G>A MANE Select | ENSP00000384620.2:p.Arg38Gln | |
| ENST00000519301.6:c.50G>A | ENSP00000429582.1:p.Arg17Gln | |
| ENST00000650856.1:c.50G>A | ENSP00000498216.1:p.Arg17Gln | |
| ENST00000650866.1:c.50G>A | ENSP00000499045.1:p.Arg17Gln | |
| ENST00000650919.1:c.113G>A | ENSP00000498811.1:p.Arg38Gln | |
| ENST00000650964.1:n.110G>A | ||
| ENST00000650967.1:c.113G>A | ENSP00000498833.1:p.Arg38Gln | |
| ENST00000650980.1:c.113G>A | ENSP00000498583.1:p.Arg38Gln | |
| ENST00000651149.1:c.50G>A | ENSP00000498375.1:p.Arg17Gln | |
| ENST00000651175.1:n.110G>A | ||
| ENST00000651335.1:c.84G>A | ||
| ENST00000651807.1:n.550G>A | ||
| ENST00000652588.1:c.227G>A | ENSP00000498367.1:p.Arg76Gln | |
| ENST00000652698.1:c.50G>A | ENSP00000499008.1:p.Arg17Gln | |
| ENST00000287842.7:c.113G>A | ENSP00000287842.4:p.Arg38Gln | |
| ENST00000356819.7:c.113G>A | ENSP00000349275.6:p.Arg38Gln | |
| ENST00000405005.7:c.113G>A | ENSP00000384620.2:p.Arg38Gln | |
| ENST00000518104.5:c.50G>A | ENSP00000430053.1:p.Arg17Gln | |
| ENST00000519301.5:c.50G>A | ENSP00000429582.1:p.Arg17Gln | |
| ENST00000520407.5:c.758G>A | ENSP00000434640.1:p.Arg253Gln | |
| ENST00000521670.5:c.113G>A | ENSP00000428828.1:p.Arg38Gln | |
| ENST00000523079.5:c.113G>A | ENSP00000430120.1:p.Arg38Gln | |
| ENST00000523534.5:c.317G>A | ENSP00000429067.1:p.Arg106Gln | |
| ENST00000631040.2:c.62G>A | ENSP00000486375.1:p.Arg21Gln | |
| NM_001159995.1:c.50G>A | NP_001153467.1:p.Arg17Gln | |
| NM_001159999.1:c.50G>A | NP_001153471.1:p.Arg17Gln | |
| NM_001160001.1:c.50G>A | NP_001153473.1:p.Arg17Gln | |
| NM_001160002.1:c.113G>A | NP_001153474.1:p.Arg38Gln | |
| NM_001160004.1:c.113G>A | NP_001153476.1:p.Arg38Gln | |
| NM_001160005.1:c.113G>A | NP_001153477.1:p.Arg38Gln | |
| NM_001160007.1:c.113G>A | NP_001153479.1:p.Arg38Gln | |
| NM_001160008.1:c.113G>A | NP_001153480.1:p.Arg38Gln | |
| NM_004495.3:c.113G>A | NP_004486.2:p.Arg38Gln | |
| NM_013956.3:c.113G>A | NP_039250.2:p.Arg38Gln | |
| NM_013957.3:c.113G>A | NP_039251.2:p.Arg38Gln | |
| NM_013958.3:c.113G>A | NP_039252.2:p.Arg38Gln | |
| NM_013960.3:c.113G>A | NP_039254.1:p.Arg38Gln | |
| NM_013962.2:c.758G>A | NP_039256.2:p.Arg253Gln | |
| NM_013964.3:c.113G>A | NP_039258.1:p.Arg38Gln | |
| XM_011544512.1:c.134G>A | XP_011542814.1:p.Arg45Gln | |
| NM_001159995.2:c.50G>A | NP_001153467.1:p.Arg17Gln | |
| NM_001159999.2:c.50G>A | NP_001153471.1:p.Arg17Gln | |
| NM_001160001.2:c.50G>A | NP_001153473.1:p.Arg17Gln | |
| NM_001160004.2:c.113G>A | NP_001153476.1:p.Arg38Gln | |
| NM_001322201.1:c.-543G>A | NP_001309130.1:n.-543G>A | |
| NM_001322202.1:c.-492G>A | NP_001309131.1:n.-492G>A | |
| NM_013956.4:c.113G>A | NP_039250.2:p.Arg38Gln | |
| NM_013957.4:c.113G>A | NP_039251.2:p.Arg38Gln | |
| NM_013960.4:c.113G>A | NP_039254.1:p.Arg38Gln | |
| NM_013964.4:c.113G>A | NP_039258.1:p.Arg38Gln | |
| XM_011544512.2:c.134G>A | XP_011542814.1:p.Arg45Gln | |
| XM_017013365.2:c.134G>A | XP_016868854.1:p.Arg45Gln | |
| XM_017013366.2:c.134G>A | XP_016868855.1:p.Arg45Gln | |
| XM_017013367.1:c.134G>A | XP_016868856.1:p.Arg45Gln | |
| XM_017013368.2:c.113G>A | XP_016868857.1:p.Arg38Gln | |
| XM_017013371.2:c.134G>A | XP_016868860.1:p.Arg45Gln | |
| XM_017013372.2:c.134G>A | XP_016868861.1:p.Arg45Gln | |
| XM_024447143.1:c.113G>A | XP_024302911.1:p.Arg38Gln | |
| NM_001159995.3:c.50G>A | NP_001153467.1:p.Arg17Gln | |
| NM_001159999.3:c.50G>A | NP_001153471.1:p.Arg17Gln | |
| NM_001160001.3:c.50G>A | NP_001153473.1:p.Arg17Gln | |
| NM_001160002.2:c.113G>A | NP_001153474.1:p.Arg38Gln | |
| NM_001160004.3:c.113G>A | NP_001153476.1:p.Arg38Gln | |
| NM_001160007.2:c.113G>A | NP_001153479.1:p.Arg38Gln | |
| NM_001160008.2:c.113G>A | NP_001153480.1:p.Arg38Gln | |
| NM_001322201.2:c.-543G>A | NP_001309130.1:n.-543G>A | |
| NM_001322202.2:c.-492G>A | NP_001309131.1:n.-492G>A | |
| NM_004495.4:c.113G>A | NP_004486.2:p.Arg38Gln | |
| NM_013956.5:c.113G>A | NP_039250.2:p.Arg38Gln | |
| NM_013957.5:c.113G>A | NP_039251.2:p.Arg38Gln | |
| NM_013960.5:c.113G>A | NP_039254.1:p.Arg38Gln | |
| NM_013964.5:c.113G>A MANE Select | NP_039258.1:p.Arg38Gln | |
| NM_001160005.2:c.113G>A | NP_001153477.1:p.Arg38Gln | |
| NM_013958.4:c.113G>A | NP_039252.2:p.Arg38Gln | |
| NM_013962.3:c.758G>A | NP_039256.2:p.Arg253Gln |