Linked Data
ClinVar Variation Id:
134809
dbSNP Id:
rs587778509
ExAC:
7:151849946 T / C
gnomAD v2:
7-151849946-T-C
gnomAD v4:
7-152152861-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152152861T>C , CM000669.2:g.152152861T>C | GRCh38 |
| NC_000007.13:g.151849946T>C , CM000669.1:g.151849946T>C | GRCh37 |
| NC_000007.12:g.151480879T>C | NCBI36 |
| NG_033948.1:g.288145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.558A>G | ||
| ENST00000682283.1:c.12541A>G | ENSP00000507485.1:p.Met4181Val | |
| ENST00000682629.1:n.113A>G | ||
| ENST00000683120.1:n.7562A>G | ||
| ENST00000683178.1:c.2943A>G | ||
| ENST00000683200.1:c.9880A>G | ENSP00000508052.1:p.Met3294Val | |
| ENST00000683337.1:n.4000A>G | ||
| ENST00000683502.1:c.3015A>G | ||
| ENST00000683886.1:n.2128A>G | ||
| ENST00000684069.1:c.787A>G | ENSP00000507650.1:p.Met263Val | |
| ENST00000684261.1:c.7267A>G | ENSP00000508097.1:p.Met2423Val | |
| ENST00000684330.1:n.3328A>G | ||
| ENST00000684649.1:c.3015A>G | ||
| ENST00000262189.11:c.12370A>G MANE Select | ENSP00000262189.6:p.Met4124Val | |
| ENST00000360104.8:c.8157A>G | ||
| ENST00000418061.2:c.3012A>G | ||
| ENST00000424877.6:c.2946A>G | ||
| ENST00000485241.2:n.507A>G | ||
| ENST00000679393.1:n.7081A>G | ||
| ENST00000679560.1:c.7270A>G | ENSP00000505094.1:p.Met2424Val | |
| ENST00000679882.1:c.11935A>G | ENSP00000506154.1:p.Met3979Val | |
| ENST00000680029.1:c.2947A>G | ||
| ENST00000680877.1:c.7270A>G | ENSP00000505724.1:p.Met2424Val | |
| ENST00000681923.1:n.1385A>G | ||
| ENST00000262189.10:c.12370A>G | ENSP00000262189.6:p.Met4124Val | |
| ENST00000355193.6:c.12370A>G | ENSP00000347325.3:p.Met4124Val | |
| ENST00000360104.7:c.5051A>G | ||
| ENST00000424877.5:c.2221A>G | ENSP00000410411.1:p.Met741Val | |
| ENST00000473186.5:n.10252A>G | ||
| ENST00000558084.5:c.*9890A>G | ENSP00000453752.1:n.*9890A>G | |
| NM_170606.2:c.12370A>G | NP_733751.2:p.Met4124Val | |
| XM_005250025.3:c.12586A>G | XP_005250082.1:p.Met4196Val | |
| XM_005250026.2:c.12583A>G | XP_005250083.1:p.Met4195Val | |
| XM_005250027.3:c.12583A>G | XP_005250084.1:p.Met4195Val | |
| XM_005250028.3:c.12586A>G | XP_005250085.1:p.Met4196Val | |
| XM_005250031.3:c.12421A>G | XP_005250088.1:p.Met4141Val | |
| XM_006716077.2:c.12583A>G | XP_006716140.1:p.Met4195Val | |
| XM_006716078.2:c.12514A>G | XP_006716141.1:p.Met4172Val | |
| XM_006716079.2:c.12418A>G | XP_006716142.1:p.Met4140Val | |
| XM_011516450.1:c.12538A>G | XP_011514752.1:p.Met4180Val | |
| XM_011516451.1:c.12466A>G | XP_011514753.1:p.Met4156Val | |
| XM_011516452.1:c.12433A>G | XP_011514754.1:p.Met4145Val | |
| XM_011516453.1:c.12349A>G | XP_011514755.1:p.Met4117Val | |
| XM_011516454.1:c.11671A>G | XP_011514756.1:p.Met3891Val | |
| XM_011516455.1:c.10132A>G | XP_011514757.1:p.Met3378Val | |
| XM_011516456.1:c.12538A>G | XP_011514758.1:p.Met4180Val | |
| XM_005250025.4:c.12586A>G | XP_005250082.1:p.Met4196Val | |
| XM_005250026.3:c.12583A>G | XP_005250083.1:p.Met4195Val | |
| XM_005250027.4:c.12583A>G | XP_005250084.1:p.Met4195Val | |
| XM_005250028.4:c.12586A>G | XP_005250085.1:p.Met4196Val | |
| XM_005250031.4:c.12421A>G | XP_005250088.1:p.Met4141Val | |
| XM_006716077.3:c.12583A>G | XP_006716140.1:p.Met4195Val | |
| XM_006716078.3:c.12514A>G | XP_006716141.1:p.Met4172Val | |
| XM_006716079.3:c.12418A>G | XP_006716142.1:p.Met4140Val | |
| XM_011516450.2:c.12538A>G | XP_011514752.1:p.Met4180Val | |
| XM_011516451.2:c.12466A>G | XP_011514753.1:p.Met4156Val | |
| XM_011516452.2:c.12433A>G | XP_011514754.1:p.Met4145Val | |
| XM_011516453.2:c.12349A>G | XP_011514755.1:p.Met4117Val | |
| XM_011516454.2:c.11671A>G | XP_011514756.1:p.Met3891Val | |
| XM_011516456.2:c.12538A>G | XP_011514758.1:p.Met4180Val | |
| XM_017012480.1:c.12586A>G | XP_016867969.1:p.Met4196Val | |
| XM_017012481.1:c.12583A>G | XP_016867970.1:p.Met4195Val | |
| XM_017012482.1:c.12583A>G | XP_016867971.1:p.Met4195Val | |
| XM_017012483.1:c.12583A>G | XP_016867972.1:p.Met4195Val | |
| XM_017012484.1:c.12553A>G | XP_016867973.1:p.Met4185Val | |
| XM_017012485.1:c.12535A>G | XP_016867974.1:p.Met4179Val | |
| XM_017012486.1:c.12511A>G | XP_016867975.1:p.Met4171Val | |
| XM_017012487.1:c.12439A>G | XP_016867976.1:p.Met4147Val | |
| XM_017012488.1:c.12403A>G | XP_016867977.1:p.Met4135Val | |
| XM_017012489.1:c.9256A>G | XP_016867978.1:p.Met3086Val | |
| XM_017012490.2:c.8860A>G | XP_016867979.1:p.Met2954Val | |
| XM_024446852.1:c.12583A>G | XP_024302620.1:p.Met4195Val | |
| XM_024446853.1:c.12511A>G | XP_024302621.1:p.Met4171Val | |
| NM_170606.3:c.12370A>G MANE Select | NP_733751.2:p.Met4124Val |