Linked Data
dbSNP Id:
rs755732520
ExAC:
7:151845907 C / T
gnomAD v2:
7-151845907-C-T
gnomAD v3:
7-152148822-C-T
gnomAD v4:
7-152148822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148822C>T , CM000669.2:g.152148822C>T | GRCh38 |
| NC_000007.13:g.151845907C>T , CM000669.1:g.151845907C>T | GRCh37 |
| NC_000007.12:g.151476840C>T | NCBI36 |
| NG_033948.1:g.292184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1293G>A | ||
| ENST00000682116.1:n.2237G>A | ||
| ENST00000682283.1:c.13276G>A | ENSP00000507485.1:p.Gly4426Arg | |
| ENST00000682629.1:n.2405G>A | ||
| ENST00000683120.1:n.8297G>A | ||
| ENST00000683178.1:c.3678G>A | ||
| ENST00000683200.1:c.10615G>A | ENSP00000508052.1:p.Gly3539Arg | |
| ENST00000683337.1:n.4735G>A | ||
| ENST00000683502.1:c.3750G>A | ||
| ENST00000683621.1:n.1871G>A | ||
| ENST00000683640.1:n.1821G>A | ||
| ENST00000684069.1:c.1522G>A | ENSP00000507650.1:p.Gly508Arg | |
| ENST00000684261.1:c.8002G>A | ENSP00000508097.1:p.Gly2668Arg | |
| ENST00000684649.1:c.3750G>A | ||
| ENST00000262189.11:c.13105G>A MANE Select | ENSP00000262189.6:p.Gly4369Arg | |
| ENST00000360104.8:c.8892G>A | ||
| ENST00000418061.2:c.3747G>A | ||
| ENST00000424877.6:c.3681G>A | ||
| ENST00000679393.1:n.7816G>A | ||
| ENST00000679560.1:c.8005G>A | ENSP00000505094.1:p.Gly2669Arg | |
| ENST00000679882.1:c.12670G>A | ENSP00000506154.1:p.Gly4224Arg | |
| ENST00000680029.1:c.3682G>A | ||
| ENST00000680877.1:c.8005G>A | ENSP00000505724.1:p.Gly2669Arg | |
| ENST00000681923.1:n.2120G>A | ||
| ENST00000262189.10:c.13105G>A | ENSP00000262189.6:p.Gly4369Arg | |
| ENST00000355193.6:c.13105G>A | ENSP00000347325.3:p.Gly4369Arg | |
| ENST00000360104.7:c.5786G>A | ||
| ENST00000424877.5:c.2956G>A | ENSP00000410411.1:p.Gly986Arg | |
| ENST00000473186.5:n.10987G>A | ||
| ENST00000558084.5:c.*10625G>A | ENSP00000453752.1:n.*10625G>A | |
| NM_170606.2:c.13105G>A | NP_733751.2:p.Gly4369Arg | |
| XM_005250025.3:c.13321G>A | XP_005250082.1:p.Gly4441Arg | |
| XM_005250026.2:c.13318G>A | XP_005250083.1:p.Gly4440Arg | |
| XM_005250027.3:c.13318G>A | XP_005250084.1:p.Gly4440Arg | |
| XM_005250028.3:c.13321G>A | XP_005250085.1:p.Gly4441Arg | |
| XM_005250031.3:c.13156G>A | XP_005250088.1:p.Gly4386Arg | |
| XM_006716077.2:c.13318G>A | XP_006716140.1:p.Gly4440Arg | |
| XM_006716078.2:c.13249G>A | XP_006716141.1:p.Gly4417Arg | |
| XM_006716079.2:c.13153G>A | XP_006716142.1:p.Gly4385Arg | |
| XM_011516450.1:c.13273G>A | XP_011514752.1:p.Gly4425Arg | |
| XM_011516451.1:c.13201G>A | XP_011514753.1:p.Gly4401Arg | |
| XM_011516452.1:c.13168G>A | XP_011514754.1:p.Gly4390Arg | |
| XM_011516453.1:c.13084G>A | XP_011514755.1:p.Gly4362Arg | |
| XM_011516454.1:c.12406G>A | XP_011514756.1:p.Gly4136Arg | |
| XM_011516455.1:c.10867G>A | XP_011514757.1:p.Gly3623Arg | |
| XM_011516456.1:c.13273G>A | XP_011514758.1:p.Gly4425Arg | |
| XM_005250025.4:c.13321G>A | XP_005250082.1:p.Gly4441Arg | |
| XM_005250026.3:c.13318G>A | XP_005250083.1:p.Gly4440Arg | |
| XM_005250027.4:c.13318G>A | XP_005250084.1:p.Gly4440Arg | |
| XM_005250028.4:c.13321G>A | XP_005250085.1:p.Gly4441Arg | |
| XM_005250031.4:c.13156G>A | XP_005250088.1:p.Gly4386Arg | |
| XM_006716077.3:c.13318G>A | XP_006716140.1:p.Gly4440Arg | |
| XM_006716078.3:c.13249G>A | XP_006716141.1:p.Gly4417Arg | |
| XM_006716079.3:c.13153G>A | XP_006716142.1:p.Gly4385Arg | |
| XM_011516450.2:c.13273G>A | XP_011514752.1:p.Gly4425Arg | |
| XM_011516451.2:c.13201G>A | XP_011514753.1:p.Gly4401Arg | |
| XM_011516452.2:c.13168G>A | XP_011514754.1:p.Gly4390Arg | |
| XM_011516453.2:c.13084G>A | XP_011514755.1:p.Gly4362Arg | |
| XM_011516454.2:c.12406G>A | XP_011514756.1:p.Gly4136Arg | |
| XM_011516456.2:c.13273G>A | XP_011514758.1:p.Gly4425Arg | |
| XM_017012480.1:c.13321G>A | XP_016867969.1:p.Gly4441Arg | |
| XM_017012481.1:c.13318G>A | XP_016867970.1:p.Gly4440Arg | |
| XM_017012482.1:c.13318G>A | XP_016867971.1:p.Gly4440Arg | |
| XM_017012483.1:c.13318G>A | XP_016867972.1:p.Gly4440Arg | |
| XM_017012484.1:c.13288G>A | XP_016867973.1:p.Gly4430Arg | |
| XM_017012485.1:c.13270G>A | XP_016867974.1:p.Gly4424Arg | |
| XM_017012486.1:c.13246G>A | XP_016867975.1:p.Gly4416Arg | |
| XM_017012487.1:c.13174G>A | XP_016867976.1:p.Gly4392Arg | |
| XM_017012488.1:c.13138G>A | XP_016867977.1:p.Gly4380Arg | |
| XM_017012489.1:c.9991G>A | XP_016867978.1:p.Gly3331Arg | |
| XM_017012490.2:c.9595G>A | XP_016867979.1:p.Gly3199Arg | |
| XM_024446852.1:c.13318G>A | XP_024302620.1:p.Gly4440Arg | |
| XM_024446853.1:c.13246G>A | XP_024302621.1:p.Gly4416Arg | |
| NM_170606.3:c.13105G>A MANE Select | NP_733751.2:p.Gly4369Arg |