Linked Data
dbSNP Id:
rs2059835981
gnomAD v4:
17-39727405-G-A
MyVariant Identifiers:
chr17:g.37883658G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727405G>A , CM000679.2:g.39727405G>A | GRCh38 |
| NC_000017.10:g.37883658G>A , CM000679.1:g.37883658G>A | GRCh37 |
| NC_000017.9:g.35137184G>A | NCBI36 |
| NG_007503.1:g.44266G>A , LRG_724:g.44266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3270G>A MANE Select | ENSP00000269571.4:p.Leu1090= | |
| ENST00000269571.9:c.3270G>A | ENSP00000269571.4:p.Leu1090= | |
| ENST00000406381.6:c.3180G>A | ENSP00000385185.2:p.Leu1060= | |
| ENST00000445658.6:c.2442G>A | ENSP00000404047.2:p.Leu814= | |
| ENST00000541774.5:c.3225G>A | ENSP00000446466.1:p.Leu1075= | |
| ENST00000578373.5:c.*3060G>A | ENSP00000463427.1:n.*3060G>A | |
| ENST00000584450.5:c.3160-284G>A | ENSP00000463714.1:n.3160-284G>A | |
| ENST00000584601.5:c.3180G>A | ENSP00000462438.1:p.Leu1060= | |
| NM_001005862.2:c.3180G>A , LRG_724t1:c.3180G>A | NP_001005862.1:p.Leu1060= | |
| NM_001289936.1:c.3225G>A , LRG_724t4:c.3225G>A | NP_001276865.1:p.Leu1075= | |
| NM_001289937.1:c.3160-284G>A | NP_001276866.1:n.3160-284G>A | |
| NM_004448.3:c.3270G>A , LRG_724t2:c.3270G>A | NP_004439.2:p.Leu1090= | |
| NR_110535.1:n.3594G>A | ||
| XM_024450641.1:c.3408G>A | XP_024306409.1:p.Leu1136= | |
| XM_024450642.1:c.3363G>A | XP_024306410.1:p.Leu1121= | |
| XM_024450643.1:c.3318G>A | XP_024306411.1:p.Leu1106= | |
| NM_001005862.3:c.3180G>A | NP_001005862.1:p.Leu1060= | |
| NM_001289936.2:c.3225G>A | NP_001276865.1:p.Leu1075= | |
| NM_001289937.2:c.3160-284G>A | NP_001276866.1:n.3160-284G>A | |
| NM_001382782.1:c.3180G>A | NP_001369711.1:p.Leu1060= | |
| NM_001382783.1:c.3180G>A | NP_001369712.1:p.Leu1060= | |
| NM_001382784.1:c.3387G>A | NP_001369713.1:p.Leu1129= | |
| NM_001382785.1:c.3372G>A | NP_001369714.1:p.Leu1124= | |
| NM_001382786.1:c.3351G>A | NP_001369715.1:p.Leu1117= | |
| NM_001382787.1:c.3345G>A | NP_001369716.1:p.Leu1115= | |
| NM_001382788.1:c.3300G>A | NP_001369717.1:p.Leu1100= | |
| NM_001382789.1:c.3291G>A | NP_001369718.1:p.Leu1097= | |
| NM_001382790.1:c.3267G>A | NP_001369719.1:p.Leu1089= | |
| NM_001382791.1:c.3261G>A | NP_001369720.1:p.Leu1087= | |
| NM_001382792.1:c.3234G>A | NP_001369721.1:p.Leu1078= | |
| NM_001382793.1:c.3228G>A | NP_001369722.1:p.Leu1076= | |
| NM_001382794.1:c.3228G>A | NP_001369723.1:p.Leu1076= | |
| NM_001382795.1:c.3222G>A | NP_001369724.1:p.Leu1074= | |
| NM_001382796.1:c.3183G>A | NP_001369725.1:p.Leu1061= | |
| NM_001382797.1:c.3171G>A | NP_001369726.1:p.Leu1057= | |
| NM_001382798.1:c.3114G>A | NP_001369727.1:p.Leu1038= | |
| NM_001382799.1:c.3090G>A | NP_001369728.1:p.Leu1030= | |
| NM_001382800.1:c.3084G>A | NP_001369729.1:p.Leu1028= | |
| NM_001382801.1:c.3066G>A | NP_001369730.1:p.Leu1022= | |
| NM_001382802.1:c.3012G>A | NP_001369731.1:p.Leu1004= | |
| NM_001382803.1:c.3118-284G>A | NP_001369732.1:n.3118-284G>A | |
| NM_001382804.1:c.2442G>A | NP_001369733.1:p.Leu814= | |
| NM_001382805.1:c.2319G>A | NP_001369734.1:p.Leu773= | |
| NM_001382806.1:c.2232G>A | NP_001369735.1:p.Leu744= | |
| NM_004448.4:c.3270G>A MANE Select | NP_004439.2:p.Leu1090= | |
| NR_110535.2:n.3508G>A |