Linked Data
dbSNP Id:
rs1261636743
gnomAD v2:
6-152461291-T-A
gnomAD v3:
6-152140156-T-A
gnomAD v4:
6-152140156-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140156T>A , CM000668.2:g.152140156T>A | GRCh38 |
| NC_000006.11:g.152461291T>A , CM000668.1:g.152461291T>A | GRCh37 |
| NC_000006.10:g.152502984T>A | NCBI36 |
| NG_012855.1:g.502244A>T | |
| NG_012855.2:g.502244A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1786A>T MANE Plus Clinical | ENSP00000346701.4:p.Ile596Phe | |
| ENST00000367255.10:c.25252A>T MANE Select | ENSP00000356224.5:p.Ile8418Phe | |
| ENST00000423061.6:c.25108A>T | ENSP00000396024.1:p.Ile8370Phe | |
| ENST00000672154.1:c.654A>T | ||
| ENST00000672169.1:c.987A>T | ||
| ENST00000673173.1:c.896A>T | ||
| ENST00000673451.1:c.1024A>T | ENSP00000500189.1:p.Ile342Phe | |
| ENST00000341594.9:c.24037A>T | ENSP00000341887.6:p.Ile8013Phe | |
| ENST00000347037.9:n.2000A>T | ||
| ENST00000354674.4:c.1786A>T | ENSP00000346701.4:p.Ile596Phe | |
| ENST00000367251.7:c.4087A>T | ENSP00000356220.3:p.Ile1363Phe | |
| ENST00000367255.9:c.25252A>T | ENSP00000356224.5:p.Ile8418Phe | |
| ENST00000367256.9:n.8944A>T | ||
| ENST00000367257.8:c.3190A>T | ENSP00000356226.4:p.Ile1064Phe | |
| ENST00000409694.6:n.8836A>T | ||
| ENST00000423061.5:c.25108A>T | ENSP00000396024.1:p.Ile8370Phe | |
| ENST00000460912.6:n.1866A>T | ||
| ENST00000478916.5:n.4274A>T | ||
| ENST00000536990.5:n.2089A>T | ||
| ENST00000539504.5:c.1717A>T | ENSP00000441052.1:p.Ile573Phe | |
| NM_033071.3:c.25108A>T | NP_149062.1:p.Ile8370Phe | |
| NM_182961.3:c.25252A>T | NP_892006.3:p.Ile8418Phe | |
| XM_006715407.1:c.25357A>T | XP_006715470.1:p.Ile8453Phe | |
| XM_006715408.1:c.25345A>T | XP_006715471.1:p.Ile8449Phe | |
| XM_006715409.1:c.25336A>T | XP_006715472.1:p.Ile8446Phe | |
| XM_006715410.1:c.25357A>T | XP_006715473.1:p.Ile8453Phe | |
| XM_006715411.1:c.25306A>T | XP_006715474.1:p.Ile8436Phe | |
| XM_006715412.1:c.25342A>T | XP_006715475.1:p.Ile8448Phe | |
| XM_006715413.1:c.25288A>T | XP_006715476.1:p.Ile8430Phe | |
| XM_006715414.1:c.25285A>T | XP_006715477.1:p.Ile8429Phe | |
| XM_006715415.1:c.25288A>T | XP_006715478.1:p.Ile8430Phe | |
| XM_006715416.1:c.25273A>T | XP_006715479.1:p.Ile8425Phe | |
| XM_006715417.1:c.25216A>T | XP_006715480.1:p.Ile8406Phe | |
| XM_006715420.1:c.25204A>T | XP_006715483.1:p.Ile8402Phe | |
| XM_006715421.1:c.25201A>T | XP_006715484.1:p.Ile8401Phe | |
| XM_006715422.1:c.25198A>T | XP_006715485.1:p.Ile8400Phe | |
| XM_006715423.1:c.25357A>T | XP_006715486.1:p.Ile8453Phe | |
| XM_006715424.1:c.25357A>T | XP_006715487.1:p.Ile8453Phe | |
| XM_006715425.1:c.25288A>T | XP_006715488.1:p.Ile8430Phe | |
| XM_011535641.1:c.25354A>T | XP_011533943.1:p.Ile8452Phe | |
| XM_011535642.1:c.25342A>T | XP_011533944.1:p.Ile8448Phe | |
| XM_011535643.1:c.25192A>T | XP_011533945.1:p.Ile8398Phe | |
| XM_011535644.1:c.23632A>T | XP_011533946.1:p.Ile7878Phe | |
| XM_011535645.1:c.23125A>T | XP_011533947.1:p.Ile7709Phe | |
| XM_011535647.1:c.18592A>T | XP_011533949.1:p.Ile6198Phe | |
| NM_001347701.1:c.1858A>T | NP_001334630.1:p.Ile620Phe | |
| NM_001347702.1:c.1786A>T | NP_001334631.1:p.Ile596Phe | |
| XM_006715408.2:c.25345A>T | XP_006715471.1:p.Ile8449Phe | |
| XM_006715410.2:c.25357A>T | XP_006715473.1:p.Ile8453Phe | |
| XM_006715412.2:c.25342A>T | XP_006715475.1:p.Ile8448Phe | |
| XM_006715413.2:c.25288A>T | XP_006715476.1:p.Ile8430Phe | |
| XM_006715415.2:c.25288A>T | XP_006715478.1:p.Ile8430Phe | |
| XM_006715416.2:c.25273A>T | XP_006715479.1:p.Ile8425Phe | |
| XM_006715417.2:c.25216A>T | XP_006715480.1:p.Ile8406Phe | |
| XM_006715420.2:c.25204A>T | XP_006715483.1:p.Ile8402Phe | |
| XM_006715421.2:c.25201A>T | XP_006715484.1:p.Ile8401Phe | |
| XM_006715423.2:c.25357A>T | XP_006715486.1:p.Ile8453Phe | |
| XM_006715424.2:c.25357A>T | XP_006715487.1:p.Ile8453Phe | |
| XM_006715425.2:c.25288A>T | XP_006715488.1:p.Ile8430Phe | |
| XM_011535641.2:c.25354A>T | XP_011533943.1:p.Ile8452Phe | |
| XM_011535642.2:c.25342A>T | XP_011533944.1:p.Ile8448Phe | |
| XM_011535645.2:c.23125A>T | XP_011533947.1:p.Ile7709Phe | |
| XM_017010608.1:c.25357A>T | XP_016866097.1:p.Ile8453Phe | |
| XM_017010609.1:c.25357A>T | XP_016866098.1:p.Ile8453Phe | |
| XM_017010610.1:c.25336A>T | XP_016866099.1:p.Ile8446Phe | |
| XM_017010611.2:c.25330A>T | XP_016866100.1:p.Ile8444Phe | |
| XM_017010612.1:c.25279A>T | XP_016866101.1:p.Ile8427Phe | |
| XM_017010613.1:c.25285A>T | XP_016866102.1:p.Ile8429Phe | |
| XM_017010614.1:c.25201A>T | XP_016866103.1:p.Ile8401Phe | |
| XM_017010615.1:c.25132A>T | XP_016866104.1:p.Ile8378Phe | |
| XM_017010616.1:c.25288A>T | XP_016866105.1:p.Ile8430Phe | |
| XM_017010617.1:c.25285A>T | XP_016866106.1:p.Ile8429Phe | |
| XM_017010618.1:c.25273A>T | XP_016866107.1:p.Ile8425Phe | |
| XM_017010619.1:c.23632A>T | XP_016866108.1:p.Ile7878Phe | |
| NM_182961.4:c.25252A>T MANE Select | NP_892006.3:p.Ile8418Phe | |
| NM_001347701.2:c.1858A>T | NP_001334630.1:p.Ile620Phe | |
| NM_001347702.2:c.1786A>T MANE Plus Clinical | NP_001334631.1:p.Ile596Phe | |
| NM_033071.5:c.25108A>T | NP_149062.2:p.Ile8370Phe |