Linked Data
ClinVar Variation Id:
1913443
ClinVar RCV Id:
RCV002593872
dbSNP Id:
rs375160184
gnomAD v3:
6-56459283-A-G
gnomAD v4:
6-56459283-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56459283A>G , CM000668.2:g.56459283A>G | GRCh38 |
| NC_000006.11:g.56324081A>G , CM000668.1:g.56324081A>G | GRCh37 |
| NC_000006.10:g.56432040A>G | NCBI36 |
| NG_029322.1:g.188614T>C | |
| NG_029322.2:g.500346T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16232-16T>C | ENSP00000400883.3:n.16232-16T>C | |
| ENST00000449297.7:c.16421-16T>C | ENSP00000393082.3:n.16421-16T>C | |
| ENST00000520645.6:c.16007-16T>C | ENSP00000431030.2:n.16007-16T>C | |
| ENST00000340834.10:c.7769-16T>C | ENSP00000489032.2:n.7769-16T>C | |
| ENST00000651289.1:c.1614-16T>C | ||
| ENST00000651457.1:n.4806-16T>C | ||
| ENST00000651790.1:c.3781-16T>C | ||
| ENST00000651941.1:n.7578-16T>C | ||
| ENST00000680361.1:c.23195-16T>C MANE Select | ENSP00000505098.1:n.23195-16T>C | |
| ENST00000244364.10:c.15254-16T>C | ENSP00000244364.6:n.15254-16T>C | |
| ENST00000312431.10:c.16352-16T>C | ENSP00000307959.7:n.16352-16T>C | |
| ENST00000361203.7:c.22124-16T>C | ENSP00000354508.3:n.22124-16T>C | |
| ENST00000370754.9:c.16766-16T>C | ENSP00000359790.6:n.16766-16T>C | |
| ENST00000370788.6:c.15866-16T>C | ENSP00000359824.2:n.15866-16T>C | |
| ENST00000421834.6:c.16232-16T>C | ENSP00000400883.3:n.16232-16T>C | |
| ENST00000466429.5:n.988-16T>C | ||
| ENST00000482156.5:n.1835-16T>C | ||
| ENST00000518464.5:n.1939-16T>C | ||
| ENST00000523292.5:c.517-16T>C | ||
| ENST00000523597.1:n.668-16T>C | ||
| NM_001144769.2:c.16766-16T>C | NP_001138241.1:n.16766-16T>C | |
| NM_001144770.1:c.16352-16T>C | NP_001138242.1:n.16352-16T>C | |
| NM_015548.4:c.15254-16T>C | NP_056363.2:n.15254-16T>C | |
| NM_183380.3:c.16232-16T>C | NP_899236.1:n.16232-16T>C | |
| XM_005249310.2:c.23195-16T>C | XP_005249367.1:n.23195-16T>C | |
| XM_005249315.2:c.23096-16T>C | XP_005249372.1:n.23096-16T>C | |
| XM_005249316.1:c.22910-16T>C | XP_005249373.1:n.22910-16T>C | |
| XM_005249318.1:c.22781-16T>C | XP_005249375.1:n.22781-16T>C | |
| XM_005249319.1:c.22682-16T>C | XP_005249376.1:n.22682-16T>C | |
| XM_005249320.3:c.22661-16T>C | XP_005249377.1:n.22661-16T>C | |
| XM_005249322.3:c.22640-16T>C | XP_005249379.1:n.22640-16T>C | |
| XM_005249323.2:c.22562-16T>C | XP_005249380.1:n.22562-16T>C | |
| XM_005249324.1:c.21584-16T>C | XP_005249381.1:n.21584-16T>C | |
| XM_011514824.1:c.23123-16T>C | XP_011513126.1:n.23123-16T>C | |
| XM_011514825.1:c.16793-16T>C | XP_011513127.1:n.16793-16T>C | |
| XM_011514826.1:c.22124-16T>C | XP_011513128.1:n.22124-16T>C | |
| XM_005249310.4:c.23195-16T>C | XP_005249367.1:n.23195-16T>C | |
| XM_005249315.3:c.23096-16T>C | XP_005249372.1:n.23096-16T>C | |
| XM_005249316.3:c.22910-16T>C | XP_005249373.1:n.22910-16T>C | |
| XM_005249318.2:c.22781-16T>C | XP_005249375.1:n.22781-16T>C | |
| XM_005249319.2:c.22682-16T>C | XP_005249376.1:n.22682-16T>C | |
| XM_005249320.4:c.22661-16T>C | XP_005249377.1:n.22661-16T>C | |
| XM_005249322.5:c.22640-16T>C | XP_005249379.1:n.22640-16T>C | |
| XM_005249323.4:c.22562-16T>C | XP_005249380.1:n.22562-16T>C | |
| XM_005249324.3:c.21584-16T>C | XP_005249381.1:n.21584-16T>C | |
| XM_011514824.2:c.23123-16T>C | XP_011513126.1:n.23123-16T>C | |
| XM_011514825.3:c.16793-16T>C | XP_011513127.1:n.16793-16T>C | |
| XM_011514826.3:c.22124-16T>C | XP_011513128.1:n.22124-16T>C | |
| XM_017011205.1:c.23222-16T>C | XP_016866694.1:n.23222-16T>C | |
| XM_017011206.1:c.23204-16T>C | XP_016866695.1:n.23204-16T>C | |
| XM_017011207.1:c.23159-16T>C | XP_016866696.1:n.23159-16T>C | |
| XM_017011208.1:c.23150-16T>C | XP_016866697.1:n.23150-16T>C | |
| XM_017011209.1:c.23132-16T>C | XP_016866698.1:n.23132-16T>C | |
| XM_017011210.1:c.23111-16T>C | XP_016866699.1:n.23111-16T>C | |
| XM_017011211.2:c.23039-16T>C | XP_016866700.1:n.23039-16T>C | |
| XM_017011212.1:c.22988-16T>C | XP_016866701.1:n.22988-16T>C | |
| XM_017011213.1:c.22895-16T>C | XP_016866702.1:n.22895-16T>C | |
| XM_017011214.2:c.22823-16T>C | XP_016866703.1:n.22823-16T>C | |
| XM_017011215.2:c.22784-16T>C | XP_016866704.1:n.22784-16T>C | |
| XM_017011216.2:c.22712-16T>C | XP_016866705.1:n.22712-16T>C | |
| XM_017011217.1:c.22598-16T>C | XP_016866706.1:n.22598-16T>C | |
| XM_017011218.1:c.17789-16T>C | XP_016866707.1:n.17789-16T>C | |
| XM_017011219.1:c.16964-16T>C | XP_016866708.1:n.16964-16T>C | |
| XM_017011220.1:c.16838-16T>C | XP_016866709.1:n.16838-16T>C | |
| XM_017011221.1:c.16730-16T>C | XP_016866710.1:n.16730-16T>C | |
| XM_017011222.2:c.16652-16T>C | XP_016866711.1:n.16652-16T>C | |
| XM_017011223.1:c.16637-16T>C | XP_016866712.1:n.16637-16T>C | |
| XM_017011224.2:c.15866-16T>C | XP_016866713.1:n.15866-16T>C | |
| XM_024446530.1:c.22541-16T>C | XP_024302298.1:n.22541-16T>C | |
| NM_001144769.5:c.16766-16T>C | NP_001138241.1:n.16766-16T>C | |
| NM_001144770.2:c.16352-16T>C | NP_001138242.1:n.16352-16T>C | |
| NM_001374722.1:c.23123-16T>C | NP_001361651.1:n.23123-16T>C | |
| NM_001374729.1:c.22124-16T>C | NP_001361658.1:n.22124-16T>C | |
| NM_001374730.1:c.15866-16T>C | NP_001361659.1:n.15866-16T>C | |
| NM_001374734.1:c.23150-16T>C | NP_001361663.1:n.23150-16T>C | |
| NM_001374736.1:c.23195-16T>C MANE Select | NP_001361665.1:n.23195-16T>C | |
| NM_015548.5:c.15254-16T>C | NP_056363.2:n.15254-16T>C | |
| NM_183380.4:c.16232-16T>C | NP_899236.1:n.16232-16T>C | |
| NM_001386100.1:c.16214-16T>C | NP_001373029.1:n.16214-16T>C |