Linked Data
ClinVar Variation Id:
735824
ClinVar RCV Id:
RCV000911416
dbSNP Id:
rs746042501
gnomAD v4:
17-39727495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727495G>A , CM000679.2:g.39727495G>A | GRCh38 |
| NC_000017.10:g.37883748G>A , CM000679.1:g.37883748G>A | GRCh37 |
| NC_000017.9:g.35137274G>A | NCBI36 |
| NG_007503.1:g.44356G>A , LRG_724:g.44356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3360G>A MANE Select | ENSP00000269571.4:p.Leu1120= | |
| ENST00000269571.9:c.3360G>A | ENSP00000269571.4:p.Leu1120= | |
| ENST00000406381.6:c.3270G>A | ENSP00000385185.2:p.Leu1090= | |
| ENST00000445658.6:c.2532G>A | ENSP00000404047.2:p.Leu844= | |
| ENST00000541774.5:c.3315G>A | ENSP00000446466.1:p.Leu1105= | |
| ENST00000578373.5:c.*3150G>A | ENSP00000463427.1:n.*3150G>A | |
| ENST00000584450.5:c.3160-194G>A | ENSP00000463714.1:n.3160-194G>A | |
| ENST00000584601.5:c.3270G>A | ENSP00000462438.1:p.Leu1090= | |
| NM_001005862.2:c.3270G>A , LRG_724t1:c.3270G>A | NP_001005862.1:p.Leu1090= | |
| NM_001289936.1:c.3315G>A , LRG_724t4:c.3315G>A | NP_001276865.1:p.Leu1105= | |
| NM_001289937.1:c.3160-194G>A | NP_001276866.1:n.3160-194G>A | |
| NM_004448.3:c.3360G>A , LRG_724t2:c.3360G>A | NP_004439.2:p.Leu1120= | |
| NR_110535.1:n.3684G>A | ||
| XM_024450641.1:c.3498G>A | XP_024306409.1:p.Leu1166= | |
| XM_024450642.1:c.3453G>A | XP_024306410.1:p.Leu1151= | |
| XM_024450643.1:c.3408G>A | XP_024306411.1:p.Leu1136= | |
| NM_001005862.3:c.3270G>A | NP_001005862.1:p.Leu1090= | |
| NM_001289936.2:c.3315G>A | NP_001276865.1:p.Leu1105= | |
| NM_001289937.2:c.3160-194G>A | NP_001276866.1:n.3160-194G>A | |
| NM_001382782.1:c.3270G>A | NP_001369711.1:p.Leu1090= | |
| NM_001382783.1:c.3270G>A | NP_001369712.1:p.Leu1090= | |
| NM_001382784.1:c.3477G>A | NP_001369713.1:p.Leu1159= | |
| NM_001382785.1:c.3462G>A | NP_001369714.1:p.Leu1154= | |
| NM_001382786.1:c.3441G>A | NP_001369715.1:p.Leu1147= | |
| NM_001382787.1:c.3435G>A | NP_001369716.1:p.Leu1145= | |
| NM_001382788.1:c.3390G>A | NP_001369717.1:p.Leu1130= | |
| NM_001382789.1:c.3381G>A | NP_001369718.1:p.Leu1127= | |
| NM_001382790.1:c.3357G>A | NP_001369719.1:p.Leu1119= | |
| NM_001382791.1:c.3351G>A | NP_001369720.1:p.Leu1117= | |
| NM_001382792.1:c.3324G>A | NP_001369721.1:p.Leu1108= | |
| NM_001382793.1:c.3318G>A | NP_001369722.1:p.Leu1106= | |
| NM_001382794.1:c.3318G>A | NP_001369723.1:p.Leu1106= | |
| NM_001382795.1:c.3312G>A | NP_001369724.1:p.Leu1104= | |
| NM_001382796.1:c.3273G>A | NP_001369725.1:p.Leu1091= | |
| NM_001382797.1:c.3261G>A | NP_001369726.1:p.Leu1087= | |
| NM_001382798.1:c.3204G>A | NP_001369727.1:p.Leu1068= | |
| NM_001382799.1:c.3180G>A | NP_001369728.1:p.Leu1060= | |
| NM_001382800.1:c.3174G>A | NP_001369729.1:p.Leu1058= | |
| NM_001382801.1:c.3156G>A | NP_001369730.1:p.Leu1052= | |
| NM_001382802.1:c.3102G>A | NP_001369731.1:p.Leu1034= | |
| NM_001382803.1:c.3118-194G>A | NP_001369732.1:n.3118-194G>A | |
| NM_001382804.1:c.2532G>A | NP_001369733.1:p.Leu844= | |
| NM_001382805.1:c.2409G>A | NP_001369734.1:p.Leu803= | |
| NM_001382806.1:c.2322G>A | NP_001369735.1:p.Leu774= | |
| NM_004448.4:c.3360G>A MANE Select | NP_004439.2:p.Leu1120= | |
| NR_110535.2:n.3598G>A |