Linked Data
ClinVar Variation Id:
1054875
ClinVar RCV Id:
RCV001363464
dbSNP Id:
rs546355407
gnomAD v2:
6-56327951-G-A
gnomAD v3:
6-56463153-G-A
gnomAD v4:
6-56463153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463153G>A , CM000668.2:g.56463153G>A | GRCh38 |
| NC_000006.11:g.56327951G>A , CM000668.1:g.56327951G>A | GRCh37 |
| NC_000006.10:g.56435910G>A | NCBI36 |
| NG_029322.1:g.184744C>T | |
| NG_029322.2:g.496476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16000C>T | ENSP00000400883.3:p.Leu5334Phe | |
| ENST00000449297.7:c.16189C>T | ENSP00000393082.3:p.Leu5397Phe | |
| ENST00000520645.6:c.15775C>T | ENSP00000431030.2:p.Leu5259Phe | |
| ENST00000340834.10:c.7644+412C>T | ENSP00000489032.2:n.7644+412C>T | |
| ENST00000651289.1:c.1382C>T | ||
| ENST00000651457.1:n.4681+412C>T | ||
| ENST00000651790.1:c.3656+412C>T | ||
| ENST00000651941.1:n.7453+412C>T | ||
| ENST00000680361.1:c.22963C>T MANE Select | ENSP00000505098.1:p.Leu7655Phe | |
| ENST00000244364.10:c.15022C>T | ENSP00000244364.6:p.Leu5008Phe | |
| ENST00000312431.10:c.16120C>T | ENSP00000307959.7:p.Leu5374Phe | |
| ENST00000361203.7:c.21999+412C>T | ENSP00000354508.3:n.21999+412C>T | |
| ENST00000370754.9:c.16534C>T | ENSP00000359790.6:p.Leu5512Phe | |
| ENST00000370788.6:c.15741+412C>T | ENSP00000359824.2:n.15741+412C>T | |
| ENST00000421834.6:c.16000C>T | ENSP00000400883.3:p.Leu5334Phe | |
| ENST00000466429.5:n.756C>T | ||
| ENST00000482156.5:n.1603C>T | ||
| ENST00000523292.5:c.392+412C>T | ||
| ENST00000523597.1:n.436C>T | ||
| NM_001144769.2:c.16534C>T | NP_001138241.1:p.Leu5512Phe | |
| NM_001144770.1:c.16120C>T | NP_001138242.1:p.Leu5374Phe | |
| NM_015548.4:c.15022C>T | NP_056363.2:p.Leu5008Phe | |
| NM_183380.3:c.16000C>T | NP_899236.1:p.Leu5334Phe | |
| XM_005249310.2:c.22963C>T | XP_005249367.1:p.Leu7655Phe | |
| XM_005249315.2:c.22864C>T | XP_005249372.1:p.Leu7622Phe | |
| XM_005249316.1:c.22678C>T | XP_005249373.1:p.Leu7560Phe | |
| XM_005249318.1:c.22549C>T | XP_005249375.1:p.Leu7517Phe | |
| XM_005249319.1:c.22450C>T | XP_005249376.1:p.Leu7484Phe | |
| XM_005249320.3:c.22429C>T | XP_005249377.1:p.Leu7477Phe | |
| XM_005249322.3:c.22408C>T | XP_005249379.1:p.Leu7470Phe | |
| XM_005249323.2:c.22330C>T | XP_005249380.1:p.Leu7444Phe | |
| XM_005249324.1:c.21352C>T | XP_005249381.1:p.Leu7118Phe | |
| XM_011514824.1:c.22891C>T | XP_011513126.1:p.Leu7631Phe | |
| XM_011514825.1:c.16561C>T | XP_011513127.1:p.Leu5521Phe | |
| XM_011514826.1:c.21999+412C>T | XP_011513128.1:n.21999+412C>T | |
| XM_005249310.4:c.22963C>T | XP_005249367.1:p.Leu7655Phe | |
| XM_005249315.3:c.22864C>T | XP_005249372.1:p.Leu7622Phe | |
| XM_005249316.3:c.22678C>T | XP_005249373.1:p.Leu7560Phe | |
| XM_005249318.2:c.22549C>T | XP_005249375.1:p.Leu7517Phe | |
| XM_005249319.2:c.22450C>T | XP_005249376.1:p.Leu7484Phe | |
| XM_005249320.4:c.22429C>T | XP_005249377.1:p.Leu7477Phe | |
| XM_005249322.5:c.22408C>T | XP_005249379.1:p.Leu7470Phe | |
| XM_005249323.4:c.22330C>T | XP_005249380.1:p.Leu7444Phe | |
| XM_005249324.3:c.21352C>T | XP_005249381.1:p.Leu7118Phe | |
| XM_011514824.2:c.22891C>T | XP_011513126.1:p.Leu7631Phe | |
| XM_011514825.3:c.16561C>T | XP_011513127.1:p.Leu5521Phe | |
| XM_011514826.3:c.21999+412C>T | XP_011513128.1:n.21999+412C>T | |
| XM_017011205.1:c.22990C>T | XP_016866694.1:p.Leu7664Phe | |
| XM_017011206.1:c.22972C>T | XP_016866695.1:p.Leu7658Phe | |
| XM_017011207.1:c.22927C>T | XP_016866696.1:p.Leu7643Phe | |
| XM_017011208.1:c.22918C>T | XP_016866697.1:p.Leu7640Phe | |
| XM_017011209.1:c.22900C>T | XP_016866698.1:p.Leu7634Phe | |
| XM_017011210.1:c.22986+412C>T | XP_016866699.1:n.22986+412C>T | |
| XM_017011211.2:c.22914+412C>T | XP_016866700.1:n.22914+412C>T | |
| XM_017011212.1:c.22756C>T | XP_016866701.1:p.Leu7586Phe | |
| XM_017011213.1:c.22663C>T | XP_016866702.1:p.Leu7555Phe | |
| XM_017011214.2:c.22591C>T | XP_016866703.1:p.Leu7531Phe | |
| XM_017011215.2:c.22659+412C>T | XP_016866704.1:n.22659+412C>T | |
| XM_017011216.2:c.22587+412C>T | XP_016866705.1:n.22587+412C>T | |
| XM_017011217.1:c.22366C>T | XP_016866706.1:p.Leu7456Phe | |
| XM_017011218.1:c.17557C>T | XP_016866707.1:p.Leu5853Phe | |
| XM_017011219.1:c.16732C>T | XP_016866708.1:p.Leu5578Phe | |
| XM_017011220.1:c.16606C>T | XP_016866709.1:p.Leu5536Phe | |
| XM_017011221.1:c.16498C>T | XP_016866710.1:p.Leu5500Phe | |
| XM_017011222.2:c.16420C>T | XP_016866711.1:p.Leu5474Phe | |
| XM_017011223.1:c.16405C>T | XP_016866712.1:p.Leu5469Phe | |
| XM_017011224.2:c.15741+412C>T | XP_016866713.1:n.15741+412C>T | |
| XM_024446530.1:c.22309C>T | XP_024302298.1:p.Leu7437Phe | |
| NM_001144769.5:c.16534C>T | NP_001138241.1:p.Leu5512Phe | |
| NM_001144770.2:c.16120C>T | NP_001138242.1:p.Leu5374Phe | |
| NM_001374722.1:c.22891C>T | NP_001361651.1:p.Leu7631Phe | |
| NM_001374729.1:c.21999+412C>T | NP_001361658.1:n.21999+412C>T | |
| NM_001374730.1:c.15741+412C>T | NP_001361659.1:n.15741+412C>T | |
| NM_001374734.1:c.22918C>T | NP_001361663.1:p.Leu7640Phe | |
| NM_001374736.1:c.22963C>T MANE Select | NP_001361665.1:p.Leu7655Phe | |
| NM_015548.5:c.15022C>T | NP_056363.2:p.Leu5008Phe | |
| NM_183380.4:c.16000C>T | NP_899236.1:p.Leu5334Phe | |
| NM_001386100.1:c.15982C>T | NP_001373029.1:p.Leu5328Phe |