Linked Data
ClinVar Variation Id:
144004
ClinVar RCV Id:
RCV000133513
dbSNP Id:
rs587777628
PubMed:
PMID:23709754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190999630G>T , CM000664.2:g.190999630G>T | GRCh38 |
| NC_000002.11:g.191864356G>T , CM000664.1:g.191864356G>T | GRCh37 |
| NC_000002.10:g.191572601G>T | NCBI36 |
| NG_008294.1:g.19621C>A , LRG_111:g.19621C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.537C>A | ENSP00000513582.1:p.Asn179Lys | |
| ENST00000698142.1:c.537C>A | ENSP00000513583.1:p.Asn179Lys | |
| ENST00000698143.1:n.697C>A | ||
| ENST00000698144.1:c.537C>A | ENSP00000513584.1:p.Asn179Lys | |
| ENST00000698145.1:c.537C>A | ENSP00000513585.1:p.Asn179Lys | |
| ENST00000698146.1:c.*287C>A | ENSP00000513586.1:n.*287C>A | |
| ENST00000698147.1:n.864C>A | ||
| ENST00000698148.1:n.864C>A | ||
| ENST00000698149.1:c.537C>A | ENSP00000513587.1:p.Asn179Lys | |
| ENST00000698151.1:n.864C>A | ||
| ENST00000361099.8:c.537C>A MANE Select | ENSP00000354394.4:p.Asn179Lys | |
| ENST00000415035.2:c.537C>A | ENSP00000388240.2:p.Asn179Lys | |
| ENST00000423282.2:c.128+10246C>A | ENSP00000388772.2:n.128+10246C>A | |
| ENST00000424722.6:c.447C>A | ENSP00000402548.2:p.Asn149Lys | |
| ENST00000452281.6:c.537C>A | ENSP00000394512.1:p.Asn179Lys | |
| ENST00000540176.6:c.537C>A | ENSP00000438703.2:p.Asn179Lys | |
| ENST00000673638.1:n.836C>A | ||
| ENST00000673734.1:c.537C>A | ENSP00000501040.1:p.Asn179Lys | |
| ENST00000673777.1:c.537C>A | ENSP00000500982.1:p.Asn179Lys | |
| ENST00000673816.1:c.537C>A | ENSP00000501127.1:p.Asn179Lys | |
| ENST00000673841.1:c.537C>A | ENSP00000501225.1:p.Asn179Lys | |
| ENST00000673847.1:c.537C>A | ENSP00000501185.1:p.Asn179Lys | |
| ENST00000673858.1:c.537C>A | ENSP00000501196.1:p.Asn179Lys | |
| ENST00000673859.1:n.836C>A | ||
| ENST00000673863.1:c.38+10246C>A | ENSP00000501286.1:n.38+10246C>A | |
| ENST00000673885.1:c.537C>A | ENSP00000501159.1:p.Asn179Lys | |
| ENST00000673942.1:c.537C>A | ENSP00000501145.1:p.Asn179Lys | |
| ENST00000673952.1:c.537C>A | ENSP00000501115.1:p.Asn179Lys | |
| ENST00000674028.1:n.310+13891C>A | ||
| ENST00000674080.1:c.537C>A | ENSP00000501164.1:p.Asn179Lys | |
| ENST00000674081.1:c.537C>A | ENSP00000501289.1:p.Asn179Lys | |
| ENST00000674153.1:c.537C>A | ENSP00000501120.1:p.Asn179Lys | |
| ENST00000361099.7:c.537C>A | ENSP00000354394.3:p.Asn179Lys | |
| ENST00000392322.7:c.537C>A | ENSP00000376136.3:p.Asn179Lys | |
| ENST00000392323.6:c.543C>A | ENSP00000376137.2:p.Asn181Lys | |
| ENST00000409465.5:c.537C>A | ENSP00000386244.1:p.Asn179Lys | |
| ENST00000424722.5:c.537C>A | ENSP00000402548.1:p.Asn179Lys | |
| ENST00000452281.5:c.537C>A | ENSP00000394512.1:p.Asn179Lys | |
| ENST00000540176.5:c.537C>A | ENSP00000438703.1:p.Asn179Lys | |
| NM_007315.3:c.537C>A , LRG_111t1:c.537C>A | NP_009330.1:p.Asn179Lys | |
| NM_139266.2:c.537C>A | NP_644671.1:p.Asn179Lys | |
| XM_006712718.1:c.537C>A | XP_006712781.1:p.Asn179Lys | |
| XM_017004783.2:c.543C>A | XP_016860272.1:p.Asn181Lys | |
| XR_001738914.2:n.930C>A | ||
| XR_001738915.2:n.872C>A | ||
| NM_007315.4:c.537C>A MANE Select | NP_009330.1:p.Asn179Lys | |
| NM_001384880.1:c.537C>A | NP_001371809.1:p.Asn179Lys | |
| NM_001384881.1:c.543C>A | NP_001371810.1:p.Asn181Lys | |
| NM_001384882.1:c.537C>A | NP_001371811.1:p.Asn179Lys | |
| NM_001384883.1:c.530C>A | NP_001371812.1:p.Thr177Lys | |
| NM_001384884.1:c.543C>A | NP_001371813.1:p.Asn181Lys | |
| NM_001384885.1:c.537C>A | NP_001371814.1:p.Asn179Lys | |
| NM_001384886.1:c.537C>A | NP_001371815.1:p.Asn179Lys | |
| NM_001384887.1:c.537C>A | NP_001371816.1:p.Asn179Lys | |
| NM_001384888.1:c.537C>A | NP_001371817.1:p.Asn179Lys | |
| NM_001384889.1:c.537C>A | NP_001371818.1:p.Asn179Lys | |
| NM_001384890.1:c.447C>A | NP_001371819.1:p.Asn149Lys | |
| NM_001384891.1:c.573C>A | NP_001371820.1:p.Asn191Lys | |
| NM_139266.3:c.537C>A | NP_644671.1:p.Asn179Lys |