Linked Data
ClinVar Variation Id:
1029166
ClinVar RCV Id:
RCV001330393
dbSNP Id:
rs1049284499
gnomAD v2:
1-156562376-A-C
gnomAD v3:
1-156592584-A-C
gnomAD v4:
1-156592584-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156592584A>C , CM000663.2:g.156592584A>C | GRCh38 |
| NC_000001.10:g.156562376A>C , CM000663.1:g.156562376A>C | GRCh37 |
| NC_000001.9:g.154829000A>C | NCBI36 |
| NG_052542.1:g.5819A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.430A>C MANE Select | ENSP00000357218.3:p.Lys144Gln | |
| ENST00000467374.2:n.540A>C | ||
| ENST00000679369.1:c.319A>C | ENSP00000505883.1:p.Lys107Gln | |
| ENST00000679649.1:n.469A>C | ||
| ENST00000679702.1:c.430A>C | ENSP00000505913.1:p.Lys144Gln | |
| ENST00000679913.1:n.634A>C | ||
| ENST00000680004.1:c.430A>C | ENSP00000506275.1:p.Lys144Gln | |
| ENST00000680087.1:c.430A>C | ENSP00000505907.1:p.Lys144Gln | |
| ENST00000680269.1:c.430A>C | ENSP00000505899.1:p.Lys144Gln | |
| ENST00000680529.1:n.614A>C | ||
| ENST00000680661.1:c.430A>C | ENSP00000505088.1:p.Lys144Gln | |
| ENST00000681054.1:c.430A>C | ENSP00000506192.1:p.Lys144Gln | |
| ENST00000681523.1:c.430A>C | ENSP00000505349.1:p.Lys144Gln | |
| ENST00000681645.1:n.469A>C | ||
| ENST00000681734.1:c.430A>C | ENSP00000506177.1:p.Lys144Gln | |
| ENST00000681825.1:n.234A>C | ||
| ENST00000681922.1:n.469A>C | ||
| ENST00000368233.3:c.430A>C | ENSP00000357216.3:p.Lys144Gln | |
| ENST00000368234.7:c.430A>C | ENSP00000357217.3:p.Lys144Gln | |
| ENST00000368235.7:c.430A>C | ENSP00000357218.3:p.Lys144Gln | |
| ENST00000467374.1:n.339A>C | ||
| NM_144772.2:c.430A>C | NP_658985.2:p.Lys144Gln | |
| XM_017000319.2:c.430A>C | XP_016855808.1:p.Lys144Gln | |
| NM_144772.3:c.430A>C MANE Select | NP_658985.2:p.Lys144Gln |