Linked Data
ClinVar Variation Id:
1108038
ClinVar RCV Id:
RCV001433383
dbSNP Id:
rs2143305666
gnomAD v4:
17-39727867-G-A
MyVariant Identifiers:
chr17:g.37884120G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727867G>A , CM000679.2:g.39727867G>A | GRCh38 |
| NC_000017.10:g.37884120G>A , CM000679.1:g.37884120G>A | GRCh37 |
| NC_000017.9:g.35137646G>A | NCBI36 |
| NG_007503.1:g.44728G>A , LRG_724:g.44728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3591G>A MANE Select | ENSP00000269571.4:p.Leu1197= | |
| ENST00000269571.9:c.3591G>A | ENSP00000269571.4:p.Leu1197= | |
| ENST00000406381.6:c.3501G>A | ENSP00000385185.2:p.Leu1167= | |
| ENST00000445658.6:c.2763G>A | ENSP00000404047.2:p.Leu921= | |
| ENST00000541774.5:c.3546G>A | ENSP00000446466.1:p.Leu1182= | |
| ENST00000578373.5:c.*3381G>A | ENSP00000463427.1:n.*3381G>A | |
| ENST00000584450.5:c.*170G>A | ENSP00000463714.1:n.*170G>A | |
| ENST00000584601.5:c.3501G>A | ENSP00000462438.1:p.Leu1167= | |
| NM_001005862.2:c.3501G>A , LRG_724t1:c.3501G>A | NP_001005862.1:p.Leu1167= | |
| NM_001289936.1:c.3546G>A , LRG_724t4:c.3546G>A | NP_001276865.1:p.Leu1182= | |
| NM_001289937.1:c.*170G>A | NP_001276866.1:n.*170G>A | |
| NM_004448.3:c.3591G>A , LRG_724t2:c.3591G>A | NP_004439.2:p.Leu1197= | |
| NR_110535.1:n.3915G>A | ||
| XM_024450641.1:c.3729G>A | XP_024306409.1:p.Leu1243= | |
| XM_024450642.1:c.3684G>A | XP_024306410.1:p.Leu1228= | |
| XM_024450643.1:c.3639G>A | XP_024306411.1:p.Leu1213= | |
| NM_001005862.3:c.3501G>A | NP_001005862.1:p.Leu1167= | |
| NM_001289936.2:c.3546G>A | NP_001276865.1:p.Leu1182= | |
| NM_001289937.2:c.*170G>A | NP_001276866.1:n.*170G>A | |
| NM_001382782.1:c.3501G>A | NP_001369711.1:p.Leu1167= | |
| NM_001382783.1:c.3501G>A | NP_001369712.1:p.Leu1167= | |
| NM_001382784.1:c.3708G>A | NP_001369713.1:p.Leu1236= | |
| NM_001382785.1:c.3693G>A | NP_001369714.1:p.Leu1231= | |
| NM_001382786.1:c.3672G>A | NP_001369715.1:p.Leu1224= | |
| NM_001382787.1:c.3666G>A | NP_001369716.1:p.Leu1222= | |
| NM_001382788.1:c.3621G>A | NP_001369717.1:p.Leu1207= | |
| NM_001382789.1:c.3612G>A | NP_001369718.1:p.Leu1204= | |
| NM_001382790.1:c.3588G>A | NP_001369719.1:p.Leu1196= | |
| NM_001382791.1:c.3582G>A | NP_001369720.1:p.Leu1194= | |
| NM_001382792.1:c.3555G>A | NP_001369721.1:p.Leu1185= | |
| NM_001382793.1:c.3549G>A | NP_001369722.1:p.Leu1183= | |
| NM_001382794.1:c.3549G>A | NP_001369723.1:p.Leu1183= | |
| NM_001382795.1:c.3543G>A | NP_001369724.1:p.Leu1181= | |
| NM_001382796.1:c.3504G>A | NP_001369725.1:p.Leu1168= | |
| NM_001382797.1:c.3492G>A | NP_001369726.1:p.Leu1164= | |
| NM_001382798.1:c.3435G>A | NP_001369727.1:p.Leu1145= | |
| NM_001382799.1:c.3411G>A | NP_001369728.1:p.Leu1137= | |
| NM_001382800.1:c.3405G>A | NP_001369729.1:p.Leu1135= | |
| NM_001382801.1:c.3387G>A | NP_001369730.1:p.Leu1129= | |
| NM_001382802.1:c.3333G>A | NP_001369731.1:p.Leu1111= | |
| NM_001382803.1:c.*170G>A | NP_001369732.1:n.*170G>A | |
| NM_001382804.1:c.2763G>A | NP_001369733.1:p.Leu921= | |
| NM_001382805.1:c.2640G>A | NP_001369734.1:p.Leu880= | |
| NM_001382806.1:c.2553G>A | NP_001369735.1:p.Leu851= | |
| NM_004448.4:c.3591G>A MANE Select | NP_004439.2:p.Leu1197= | |
| NR_110535.2:n.3829G>A |