Linked Data
ClinVar Variation Id:
972435
ClinVar RCV Id:
RCV001248466
dbSNP Id:
rs375019954
ExAC:
6:56327950 A / G
gnomAD v2:
6-56327950-A-G
gnomAD v3:
6-56463152-A-G
gnomAD v4:
6-56463152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463152A>G , CM000668.2:g.56463152A>G | GRCh38 |
| NC_000006.11:g.56327950A>G , CM000668.1:g.56327950A>G | GRCh37 |
| NC_000006.10:g.56435909A>G | NCBI36 |
| NG_029322.1:g.184745T>C | |
| NG_029322.2:g.496477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16001T>C | ENSP00000400883.3:p.Leu5334Pro | |
| ENST00000449297.7:c.16190T>C | ENSP00000393082.3:p.Leu5397Pro | |
| ENST00000520645.6:c.15776T>C | ENSP00000431030.2:p.Leu5259Pro | |
| ENST00000340834.10:c.7644+413T>C | ENSP00000489032.2:n.7644+413T>C | |
| ENST00000651289.1:c.1383T>C | ||
| ENST00000651457.1:n.4681+413T>C | ||
| ENST00000651790.1:c.3656+413T>C | ||
| ENST00000651941.1:n.7453+413T>C | ||
| ENST00000680361.1:c.22964T>C MANE Select | ENSP00000505098.1:p.Leu7655Pro | |
| ENST00000244364.10:c.15023T>C | ENSP00000244364.6:p.Leu5008Pro | |
| ENST00000312431.10:c.16121T>C | ENSP00000307959.7:p.Leu5374Pro | |
| ENST00000361203.7:c.21999+413T>C | ENSP00000354508.3:n.21999+413T>C | |
| ENST00000370754.9:c.16535T>C | ENSP00000359790.6:p.Leu5512Pro | |
| ENST00000370788.6:c.15741+413T>C | ENSP00000359824.2:n.15741+413T>C | |
| ENST00000421834.6:c.16001T>C | ENSP00000400883.3:p.Leu5334Pro | |
| ENST00000466429.5:n.757T>C | ||
| ENST00000482156.5:n.1604T>C | ||
| ENST00000523292.5:c.392+413T>C | ||
| ENST00000523597.1:n.437T>C | ||
| NM_001144769.2:c.16535T>C | NP_001138241.1:p.Leu5512Pro | |
| NM_001144770.1:c.16121T>C | NP_001138242.1:p.Leu5374Pro | |
| NM_015548.4:c.15023T>C | NP_056363.2:p.Leu5008Pro | |
| NM_183380.3:c.16001T>C | NP_899236.1:p.Leu5334Pro | |
| XM_005249310.2:c.22964T>C | XP_005249367.1:p.Leu7655Pro | |
| XM_005249315.2:c.22865T>C | XP_005249372.1:p.Leu7622Pro | |
| XM_005249316.1:c.22679T>C | XP_005249373.1:p.Leu7560Pro | |
| XM_005249318.1:c.22550T>C | XP_005249375.1:p.Leu7517Pro | |
| XM_005249319.1:c.22451T>C | XP_005249376.1:p.Leu7484Pro | |
| XM_005249320.3:c.22430T>C | XP_005249377.1:p.Leu7477Pro | |
| XM_005249322.3:c.22409T>C | XP_005249379.1:p.Leu7470Pro | |
| XM_005249323.2:c.22331T>C | XP_005249380.1:p.Leu7444Pro | |
| XM_005249324.1:c.21353T>C | XP_005249381.1:p.Leu7118Pro | |
| XM_011514824.1:c.22892T>C | XP_011513126.1:p.Leu7631Pro | |
| XM_011514825.1:c.16562T>C | XP_011513127.1:p.Leu5521Pro | |
| XM_011514826.1:c.21999+413T>C | XP_011513128.1:n.21999+413T>C | |
| XM_005249310.4:c.22964T>C | XP_005249367.1:p.Leu7655Pro | |
| XM_005249315.3:c.22865T>C | XP_005249372.1:p.Leu7622Pro | |
| XM_005249316.3:c.22679T>C | XP_005249373.1:p.Leu7560Pro | |
| XM_005249318.2:c.22550T>C | XP_005249375.1:p.Leu7517Pro | |
| XM_005249319.2:c.22451T>C | XP_005249376.1:p.Leu7484Pro | |
| XM_005249320.4:c.22430T>C | XP_005249377.1:p.Leu7477Pro | |
| XM_005249322.5:c.22409T>C | XP_005249379.1:p.Leu7470Pro | |
| XM_005249323.4:c.22331T>C | XP_005249380.1:p.Leu7444Pro | |
| XM_005249324.3:c.21353T>C | XP_005249381.1:p.Leu7118Pro | |
| XM_011514824.2:c.22892T>C | XP_011513126.1:p.Leu7631Pro | |
| XM_011514825.3:c.16562T>C | XP_011513127.1:p.Leu5521Pro | |
| XM_011514826.3:c.21999+413T>C | XP_011513128.1:n.21999+413T>C | |
| XM_017011205.1:c.22991T>C | XP_016866694.1:p.Leu7664Pro | |
| XM_017011206.1:c.22973T>C | XP_016866695.1:p.Leu7658Pro | |
| XM_017011207.1:c.22928T>C | XP_016866696.1:p.Leu7643Pro | |
| XM_017011208.1:c.22919T>C | XP_016866697.1:p.Leu7640Pro | |
| XM_017011209.1:c.22901T>C | XP_016866698.1:p.Leu7634Pro | |
| XM_017011210.1:c.22986+413T>C | XP_016866699.1:n.22986+413T>C | |
| XM_017011211.2:c.22914+413T>C | XP_016866700.1:n.22914+413T>C | |
| XM_017011212.1:c.22757T>C | XP_016866701.1:p.Leu7586Pro | |
| XM_017011213.1:c.22664T>C | XP_016866702.1:p.Leu7555Pro | |
| XM_017011214.2:c.22592T>C | XP_016866703.1:p.Leu7531Pro | |
| XM_017011215.2:c.22659+413T>C | XP_016866704.1:n.22659+413T>C | |
| XM_017011216.2:c.22587+413T>C | XP_016866705.1:n.22587+413T>C | |
| XM_017011217.1:c.22367T>C | XP_016866706.1:p.Leu7456Pro | |
| XM_017011218.1:c.17558T>C | XP_016866707.1:p.Leu5853Pro | |
| XM_017011219.1:c.16733T>C | XP_016866708.1:p.Leu5578Pro | |
| XM_017011220.1:c.16607T>C | XP_016866709.1:p.Leu5536Pro | |
| XM_017011221.1:c.16499T>C | XP_016866710.1:p.Leu5500Pro | |
| XM_017011222.2:c.16421T>C | XP_016866711.1:p.Leu5474Pro | |
| XM_017011223.1:c.16406T>C | XP_016866712.1:p.Leu5469Pro | |
| XM_017011224.2:c.15741+413T>C | XP_016866713.1:n.15741+413T>C | |
| XM_024446530.1:c.22310T>C | XP_024302298.1:p.Leu7437Pro | |
| NM_001144769.5:c.16535T>C | NP_001138241.1:p.Leu5512Pro | |
| NM_001144770.2:c.16121T>C | NP_001138242.1:p.Leu5374Pro | |
| NM_001374722.1:c.22892T>C | NP_001361651.1:p.Leu7631Pro | |
| NM_001374729.1:c.21999+413T>C | NP_001361658.1:n.21999+413T>C | |
| NM_001374730.1:c.15741+413T>C | NP_001361659.1:n.15741+413T>C | |
| NM_001374734.1:c.22919T>C | NP_001361663.1:p.Leu7640Pro | |
| NM_001374736.1:c.22964T>C MANE Select | NP_001361665.1:p.Leu7655Pro | |
| NM_015548.5:c.15023T>C | NP_056363.2:p.Leu5008Pro | |
| NM_183380.4:c.16001T>C | NP_899236.1:p.Leu5334Pro | |
| NM_001386100.1:c.15983T>C | NP_001373029.1:p.Leu5328Pro |