UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
284474
ClinVar RCV Id:
RCV000266512
RCV000321614
RCV000710244
RCV001252119
RCV001331537
RCV001362101
RCV002518932
RCV003417894
dbSNP Id:
rs145899734
ExAC:
6:152631566 G / A
gnomAD v2:
6-152631566-G-A
gnomAD v3:
6-152310431-G-A
gnomAD v4:
6-152310431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152310431G>A , CM000668.2:g.152310431G>A | GRCh38 |
| NC_000006.11:g.152631566G>A , CM000668.1:g.152631566G>A | GRCh37 |
| NC_000006.10:g.152673259G>A | NCBI36 |
| NG_012855.1:g.331969C>T | |
| NG_012855.2:g.331969C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682252.1:n.1055C>T | ||
| ENST00000684208.1:n.1055C>T | ||
| ENST00000684643.1:n.1144C>T | ||
| ENST00000367255.10:c.16984C>T MANE Select | ENSP00000356224.5:p.Arg5662Cys | |
| ENST00000423061.6:c.16771C>T | ENSP00000396024.1:p.Arg5591Cys | |
| ENST00000341594.9:c.15769C>T | ENSP00000341887.6:p.Arg5257Cys | |
| ENST00000367255.9:c.16984C>T | ENSP00000356224.5:p.Arg5662Cys | |
| ENST00000367256.9:n.676C>T | ||
| ENST00000409694.6:n.568C>T | ||
| ENST00000423061.5:c.16771C>T | ENSP00000396024.1:p.Arg5591Cys | |
| NM_033071.3:c.16771C>T | NP_149062.1:p.Arg5591Cys | |
| NM_182961.3:c.16984C>T | NP_892006.3:p.Arg5662Cys | |
| XM_006715407.1:c.17005C>T | XP_006715470.1:p.Arg5669Cys | |
| XM_006715408.1:c.17005C>T | XP_006715471.1:p.Arg5669Cys | |
| XM_006715409.1:c.16984C>T | XP_006715472.1:p.Arg5662Cys | |
| XM_006715410.1:c.17005C>T | XP_006715473.1:p.Arg5669Cys | |
| XM_006715411.1:c.16954C>T | XP_006715474.1:p.Arg5652Cys | |
| XM_006715412.1:c.17005C>T | XP_006715475.1:p.Arg5669Cys | |
| XM_006715413.1:c.17005C>T | XP_006715476.1:p.Arg5669Cys | |
| XM_006715414.1:c.16933C>T | XP_006715477.1:p.Arg5645Cys | |
| XM_006715415.1:c.17005C>T | XP_006715478.1:p.Arg5669Cys | |
| XM_006715416.1:c.17005C>T | XP_006715479.1:p.Arg5669Cys | |
| XM_006715417.1:c.17005C>T | XP_006715480.1:p.Arg5669Cys | |
| XM_006715420.1:c.17005C>T | XP_006715483.1:p.Arg5669Cys | |
| XM_006715421.1:c.16849C>T | XP_006715484.1:p.Arg5617Cys | |
| XM_006715422.1:c.16846C>T | XP_006715485.1:p.Arg5616Cys | |
| XM_006715423.1:c.17005C>T | XP_006715486.1:p.Arg5669Cys | |
| XM_006715424.1:c.17005C>T | XP_006715487.1:p.Arg5669Cys | |
| XM_006715425.1:c.17005C>T | XP_006715488.1:p.Arg5669Cys | |
| XM_011535641.1:c.17005C>T | XP_011533943.1:p.Arg5669Cys | |
| XM_011535642.1:c.17005C>T | XP_011533944.1:p.Arg5669Cys | |
| XM_011535643.1:c.16840C>T | XP_011533945.1:p.Arg5614Cys | |
| XM_011535644.1:c.15280C>T | XP_011533946.1:p.Arg5094Cys | |
| XM_011535645.1:c.14773C>T | XP_011533947.1:p.Arg4925Cys | |
| XM_011535646.1:c.17005C>T | XP_011533948.1:p.Arg5669Cys | |
| XM_011535647.1:c.10240C>T | XP_011533949.1:p.Arg3414Cys | |
| XM_006715408.2:c.17005C>T | XP_006715471.1:p.Arg5669Cys | |
| XM_006715410.2:c.17005C>T | XP_006715473.1:p.Arg5669Cys | |
| XM_006715412.2:c.17005C>T | XP_006715475.1:p.Arg5669Cys | |
| XM_006715413.2:c.17005C>T | XP_006715476.1:p.Arg5669Cys | |
| XM_006715415.2:c.17005C>T | XP_006715478.1:p.Arg5669Cys | |
| XM_006715416.2:c.17005C>T | XP_006715479.1:p.Arg5669Cys | |
| XM_006715417.2:c.17005C>T | XP_006715480.1:p.Arg5669Cys | |
| XM_006715420.2:c.17005C>T | XP_006715483.1:p.Arg5669Cys | |
| XM_006715421.2:c.16849C>T | XP_006715484.1:p.Arg5617Cys | |
| XM_006715423.2:c.17005C>T | XP_006715486.1:p.Arg5669Cys | |
| XM_006715424.2:c.17005C>T | XP_006715487.1:p.Arg5669Cys | |
| XM_006715425.2:c.17005C>T | XP_006715488.1:p.Arg5669Cys | |
| XM_011535641.2:c.17005C>T | XP_011533943.1:p.Arg5669Cys | |
| XM_011535642.2:c.17005C>T | XP_011533944.1:p.Arg5669Cys | |
| XM_011535645.2:c.14773C>T | XP_011533947.1:p.Arg4925Cys | |
| XM_017010608.1:c.17005C>T | XP_016866097.1:p.Arg5669Cys | |
| XM_017010609.1:c.17005C>T | XP_016866098.1:p.Arg5669Cys | |
| XM_017010610.1:c.16984C>T | XP_016866099.1:p.Arg5662Cys | |
| XM_017010611.2:c.16978C>T | XP_016866100.1:p.Arg5660Cys | |
| XM_017010612.1:c.16927C>T | XP_016866101.1:p.Arg5643Cys | |
| XM_017010613.1:c.17005C>T | XP_016866102.1:p.Arg5669Cys | |
| XM_017010614.1:c.17005C>T | XP_016866103.1:p.Arg5669Cys | |
| XM_017010615.1:c.17005C>T | XP_016866104.1:p.Arg5669Cys | |
| XM_017010616.1:c.17005C>T | XP_016866105.1:p.Arg5669Cys | |
| XM_017010617.1:c.17005C>T | XP_016866106.1:p.Arg5669Cys | |
| XM_017010618.1:c.17005C>T | XP_016866107.1:p.Arg5669Cys | |
| XM_017010619.1:c.15280C>T | XP_016866108.1:p.Arg5094Cys | |
| XR_001743287.1:n.17488C>T | ||
| NM_182961.4:c.16984C>T MANE Select | NP_892006.3:p.Arg5662Cys | |
| NM_033071.5:c.16771C>T | NP_149062.2:p.Arg5591Cys |