Linked Data
dbSNP Id:
rs2143314269
gnomAD v4:
17-39727954-C-T
MyVariant Identifiers:
chr17:g.37884207C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727954C>T , CM000679.2:g.39727954C>T | GRCh38 |
| NC_000017.10:g.37884207C>T , CM000679.1:g.37884207C>T | GRCh37 |
| NC_000017.9:g.35137733C>T | NCBI36 |
| NG_007503.1:g.44815C>T , LRG_724:g.44815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3678C>T MANE Select | ENSP00000269571.4:p.Asp1226= | |
| ENST00000269571.9:c.3678C>T | ENSP00000269571.4:p.Asp1226= | |
| ENST00000406381.6:c.3588C>T | ENSP00000385185.2:p.Asp1196= | |
| ENST00000445658.6:c.2850C>T | ENSP00000404047.2:p.Asp950= | |
| ENST00000541774.5:c.3633C>T | ENSP00000446466.1:p.Asp1211= | |
| ENST00000578373.5:c.*3468C>T | ENSP00000463427.1:n.*3468C>T | |
| ENST00000584450.5:c.*257C>T | ENSP00000463714.1:n.*257C>T | |
| ENST00000584601.5:c.3588C>T | ENSP00000462438.1:p.Asp1196= | |
| NM_001005862.2:c.3588C>T , LRG_724t1:c.3588C>T | NP_001005862.1:p.Asp1196= | |
| NM_001289936.1:c.3633C>T , LRG_724t4:c.3633C>T | NP_001276865.1:p.Asp1211= | |
| NM_001289937.1:c.*257C>T | NP_001276866.1:n.*257C>T | |
| NM_004448.3:c.3678C>T , LRG_724t2:c.3678C>T | NP_004439.2:p.Asp1226= | |
| NR_110535.1:n.4002C>T | ||
| XM_024450641.1:c.3816C>T | XP_024306409.1:p.Asp1272= | |
| XM_024450642.1:c.3771C>T | XP_024306410.1:p.Asp1257= | |
| XM_024450643.1:c.3726C>T | XP_024306411.1:p.Asp1242= | |
| NM_001005862.3:c.3588C>T | NP_001005862.1:p.Asp1196= | |
| NM_001289936.2:c.3633C>T | NP_001276865.1:p.Asp1211= | |
| NM_001289937.2:c.*257C>T | NP_001276866.1:n.*257C>T | |
| NM_001382782.1:c.3588C>T | NP_001369711.1:p.Asp1196= | |
| NM_001382783.1:c.3588C>T | NP_001369712.1:p.Asp1196= | |
| NM_001382784.1:c.3795C>T | NP_001369713.1:p.Asp1265= | |
| NM_001382785.1:c.3780C>T | NP_001369714.1:p.Asp1260= | |
| NM_001382786.1:c.3759C>T | NP_001369715.1:p.Asp1253= | |
| NM_001382787.1:c.3753C>T | NP_001369716.1:p.Asp1251= | |
| NM_001382788.1:c.3708C>T | NP_001369717.1:p.Asp1236= | |
| NM_001382789.1:c.3699C>T | NP_001369718.1:p.Asp1233= | |
| NM_001382790.1:c.3675C>T | NP_001369719.1:p.Asp1225= | |
| NM_001382791.1:c.3669C>T | NP_001369720.1:p.Asp1223= | |
| NM_001382792.1:c.3642C>T | NP_001369721.1:p.Asp1214= | |
| NM_001382793.1:c.3636C>T | NP_001369722.1:p.Asp1212= | |
| NM_001382794.1:c.3636C>T | NP_001369723.1:p.Asp1212= | |
| NM_001382795.1:c.3630C>T | NP_001369724.1:p.Asp1210= | |
| NM_001382796.1:c.3591C>T | NP_001369725.1:p.Asp1197= | |
| NM_001382797.1:c.3579C>T | NP_001369726.1:p.Asp1193= | |
| NM_001382798.1:c.3522C>T | NP_001369727.1:p.Asp1174= | |
| NM_001382799.1:c.3498C>T | NP_001369728.1:p.Asp1166= | |
| NM_001382800.1:c.3492C>T | NP_001369729.1:p.Asp1164= | |
| NM_001382801.1:c.3474C>T | NP_001369730.1:p.Asp1158= | |
| NM_001382802.1:c.3420C>T | NP_001369731.1:p.Asp1140= | |
| NM_001382803.1:c.*257C>T | NP_001369732.1:n.*257C>T | |
| NM_001382804.1:c.2850C>T | NP_001369733.1:p.Asp950= | |
| NM_001382805.1:c.2727C>T | NP_001369734.1:p.Asp909= | |
| NM_001382806.1:c.2640C>T | NP_001369735.1:p.Asp880= | |
| NM_004448.4:c.3678C>T MANE Select | NP_004439.2:p.Asp1226= | |
| NR_110535.2:n.3916C>T |