Linked Data
ClinVar Variation Id:
1428662
ClinVar RCV Id:
RCV001948329
dbSNP Id:
rs373605104
gnomAD v2:
17-37884140-C-G
gnomAD v3:
17-39727887-C-G
gnomAD v4:
17-39727887-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727887C>G , CM000679.2:g.39727887C>G | GRCh38 |
| NC_000017.10:g.37884140C>G , CM000679.1:g.37884140C>G | GRCh37 |
| NC_000017.9:g.35137666C>G | NCBI36 |
| NG_007503.1:g.44748C>G , LRG_724:g.44748C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3611C>G MANE Select | ENSP00000269571.4:p.Ala1204Gly | |
| ENST00000269571.9:c.3611C>G | ENSP00000269571.4:p.Ala1204Gly | |
| ENST00000406381.6:c.3521C>G | ENSP00000385185.2:p.Ala1174Gly | |
| ENST00000445658.6:c.2783C>G | ENSP00000404047.2:p.Ala928Gly | |
| ENST00000541774.5:c.3566C>G | ENSP00000446466.1:p.Ala1189Gly | |
| ENST00000578373.5:c.*3401C>G | ENSP00000463427.1:n.*3401C>G | |
| ENST00000584450.5:c.*190C>G | ENSP00000463714.1:n.*190C>G | |
| ENST00000584601.5:c.3521C>G | ENSP00000462438.1:p.Ala1174Gly | |
| NM_001005862.2:c.3521C>G , LRG_724t1:c.3521C>G | NP_001005862.1:p.Ala1174Gly | |
| NM_001289936.1:c.3566C>G , LRG_724t4:c.3566C>G | NP_001276865.1:p.Ala1189Gly | |
| NM_001289937.1:c.*190C>G | NP_001276866.1:n.*190C>G | |
| NM_004448.3:c.3611C>G , LRG_724t2:c.3611C>G | NP_004439.2:p.Ala1204Gly | |
| NR_110535.1:n.3935C>G | ||
| XM_024450641.1:c.3749C>G | XP_024306409.1:p.Ala1250Gly | |
| XM_024450642.1:c.3704C>G | XP_024306410.1:p.Ala1235Gly | |
| XM_024450643.1:c.3659C>G | XP_024306411.1:p.Ala1220Gly | |
| NM_001005862.3:c.3521C>G | NP_001005862.1:p.Ala1174Gly | |
| NM_001289936.2:c.3566C>G | NP_001276865.1:p.Ala1189Gly | |
| NM_001289937.2:c.*190C>G | NP_001276866.1:n.*190C>G | |
| NM_001382782.1:c.3521C>G | NP_001369711.1:p.Ala1174Gly | |
| NM_001382783.1:c.3521C>G | NP_001369712.1:p.Ala1174Gly | |
| NM_001382784.1:c.3728C>G | NP_001369713.1:p.Ala1243Gly | |
| NM_001382785.1:c.3713C>G | NP_001369714.1:p.Ala1238Gly | |
| NM_001382786.1:c.3692C>G | NP_001369715.1:p.Ala1231Gly | |
| NM_001382787.1:c.3686C>G | NP_001369716.1:p.Ala1229Gly | |
| NM_001382788.1:c.3641C>G | NP_001369717.1:p.Ala1214Gly | |
| NM_001382789.1:c.3632C>G | NP_001369718.1:p.Ala1211Gly | |
| NM_001382790.1:c.3608C>G | NP_001369719.1:p.Ala1203Gly | |
| NM_001382791.1:c.3602C>G | NP_001369720.1:p.Ala1201Gly | |
| NM_001382792.1:c.3575C>G | NP_001369721.1:p.Ala1192Gly | |
| NM_001382793.1:c.3569C>G | NP_001369722.1:p.Ala1190Gly | |
| NM_001382794.1:c.3569C>G | NP_001369723.1:p.Ala1190Gly | |
| NM_001382795.1:c.3563C>G | NP_001369724.1:p.Ala1188Gly | |
| NM_001382796.1:c.3524C>G | NP_001369725.1:p.Ala1175Gly | |
| NM_001382797.1:c.3512C>G | NP_001369726.1:p.Ala1171Gly | |
| NM_001382798.1:c.3455C>G | NP_001369727.1:p.Ala1152Gly | |
| NM_001382799.1:c.3431C>G | NP_001369728.1:p.Ala1144Gly | |
| NM_001382800.1:c.3425C>G | NP_001369729.1:p.Ala1142Gly | |
| NM_001382801.1:c.3407C>G | NP_001369730.1:p.Ala1136Gly | |
| NM_001382802.1:c.3353C>G | NP_001369731.1:p.Ala1118Gly | |
| NM_001382803.1:c.*190C>G | NP_001369732.1:n.*190C>G | |
| NM_001382804.1:c.2783C>G | NP_001369733.1:p.Ala928Gly | |
| NM_001382805.1:c.2660C>G | NP_001369734.1:p.Ala887Gly | |
| NM_001382806.1:c.2573C>G | NP_001369735.1:p.Ala858Gly | |
| NM_004448.4:c.3611C>G MANE Select | NP_004439.2:p.Ala1204Gly | |
| NR_110535.2:n.3849C>G |