Linked Data
dbSNP Id:
rs1458480191
gnomAD v2:
7-151845878-T-C
gnomAD v3:
7-152148793-T-C
gnomAD v4:
7-152148793-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148793T>C , CM000669.2:g.152148793T>C | GRCh38 |
| NC_000007.13:g.151845878T>C , CM000669.1:g.151845878T>C | GRCh37 |
| NC_000007.12:g.151476811T>C | NCBI36 |
| NG_033948.1:g.292213A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1322A>G | ||
| ENST00000682116.1:n.2266A>G | ||
| ENST00000682283.1:c.13305A>G | ENSP00000507485.1:p.Glu4435= | |
| ENST00000682629.1:n.2434A>G | ||
| ENST00000683120.1:n.8326A>G | ||
| ENST00000683178.1:c.3707A>G | ||
| ENST00000683200.1:c.10644A>G | ENSP00000508052.1:p.Glu3548= | |
| ENST00000683337.1:n.4764A>G | ||
| ENST00000683502.1:c.3779A>G | ||
| ENST00000683621.1:n.1900A>G | ||
| ENST00000683640.1:n.1850A>G | ||
| ENST00000684069.1:c.1551A>G | ENSP00000507650.1:p.Glu517= | |
| ENST00000684261.1:c.8031A>G | ENSP00000508097.1:p.Glu2677= | |
| ENST00000684649.1:c.3779A>G | ||
| ENST00000262189.11:c.13134A>G MANE Select | ENSP00000262189.6:p.Glu4378= | |
| ENST00000360104.8:c.8921A>G | ||
| ENST00000418061.2:c.3776A>G | ||
| ENST00000424877.6:c.3710A>G | ||
| ENST00000679393.1:n.7845A>G | ||
| ENST00000679560.1:c.8034A>G | ENSP00000505094.1:p.Glu2678= | |
| ENST00000679882.1:c.12699A>G | ENSP00000506154.1:p.Glu4233= | |
| ENST00000680029.1:c.3711A>G | ||
| ENST00000680877.1:c.8034A>G | ENSP00000505724.1:p.Glu2678= | |
| ENST00000681923.1:n.2149A>G | ||
| ENST00000262189.10:c.13134A>G | ENSP00000262189.6:p.Glu4378= | |
| ENST00000355193.6:c.13134A>G | ENSP00000347325.3:p.Glu4378= | |
| ENST00000360104.7:c.5815A>G | ||
| ENST00000424877.5:c.2985A>G | ENSP00000410411.1:p.Glu995= | |
| ENST00000473186.5:n.11016A>G | ||
| ENST00000558084.5:c.*10654A>G | ENSP00000453752.1:n.*10654A>G | |
| NM_170606.2:c.13134A>G | NP_733751.2:p.Glu4378= | |
| XM_005250025.3:c.13350A>G | XP_005250082.1:p.Glu4450= | |
| XM_005250026.2:c.13347A>G | XP_005250083.1:p.Glu4449= | |
| XM_005250027.3:c.13347A>G | XP_005250084.1:p.Glu4449= | |
| XM_005250028.3:c.13350A>G | XP_005250085.1:p.Glu4450= | |
| XM_005250031.3:c.13185A>G | XP_005250088.1:p.Glu4395= | |
| XM_006716077.2:c.13347A>G | XP_006716140.1:p.Glu4449= | |
| XM_006716078.2:c.13278A>G | XP_006716141.1:p.Glu4426= | |
| XM_006716079.2:c.13182A>G | XP_006716142.1:p.Glu4394= | |
| XM_011516450.1:c.13302A>G | XP_011514752.1:p.Glu4434= | |
| XM_011516451.1:c.13230A>G | XP_011514753.1:p.Glu4410= | |
| XM_011516452.1:c.13197A>G | XP_011514754.1:p.Glu4399= | |
| XM_011516453.1:c.13113A>G | XP_011514755.1:p.Glu4371= | |
| XM_011516454.1:c.12435A>G | XP_011514756.1:p.Glu4145= | |
| XM_011516455.1:c.10896A>G | XP_011514757.1:p.Glu3632= | |
| XM_011516456.1:c.13302A>G | XP_011514758.1:p.Glu4434= | |
| XM_005250025.4:c.13350A>G | XP_005250082.1:p.Glu4450= | |
| XM_005250026.3:c.13347A>G | XP_005250083.1:p.Glu4449= | |
| XM_005250027.4:c.13347A>G | XP_005250084.1:p.Glu4449= | |
| XM_005250028.4:c.13350A>G | XP_005250085.1:p.Glu4450= | |
| XM_005250031.4:c.13185A>G | XP_005250088.1:p.Glu4395= | |
| XM_006716077.3:c.13347A>G | XP_006716140.1:p.Glu4449= | |
| XM_006716078.3:c.13278A>G | XP_006716141.1:p.Glu4426= | |
| XM_006716079.3:c.13182A>G | XP_006716142.1:p.Glu4394= | |
| XM_011516450.2:c.13302A>G | XP_011514752.1:p.Glu4434= | |
| XM_011516451.2:c.13230A>G | XP_011514753.1:p.Glu4410= | |
| XM_011516452.2:c.13197A>G | XP_011514754.1:p.Glu4399= | |
| XM_011516453.2:c.13113A>G | XP_011514755.1:p.Glu4371= | |
| XM_011516454.2:c.12435A>G | XP_011514756.1:p.Glu4145= | |
| XM_011516456.2:c.13302A>G | XP_011514758.1:p.Glu4434= | |
| XM_017012480.1:c.13350A>G | XP_016867969.1:p.Glu4450= | |
| XM_017012481.1:c.13347A>G | XP_016867970.1:p.Glu4449= | |
| XM_017012482.1:c.13347A>G | XP_016867971.1:p.Glu4449= | |
| XM_017012483.1:c.13347A>G | XP_016867972.1:p.Glu4449= | |
| XM_017012484.1:c.13317A>G | XP_016867973.1:p.Glu4439= | |
| XM_017012485.1:c.13299A>G | XP_016867974.1:p.Glu4433= | |
| XM_017012486.1:c.13275A>G | XP_016867975.1:p.Glu4425= | |
| XM_017012487.1:c.13203A>G | XP_016867976.1:p.Glu4401= | |
| XM_017012488.1:c.13167A>G | XP_016867977.1:p.Glu4389= | |
| XM_017012489.1:c.10020A>G | XP_016867978.1:p.Glu3340= | |
| XM_017012490.2:c.9624A>G | XP_016867979.1:p.Glu3208= | |
| XM_024446852.1:c.13347A>G | XP_024302620.1:p.Glu4449= | |
| XM_024446853.1:c.13275A>G | XP_024302621.1:p.Glu4425= | |
| NM_170606.3:c.13134A>G MANE Select | NP_733751.2:p.Glu4378= |