Linked Data
ClinVar Variation Id:
2800652
ClinVar RCV Id:
RCV003673641
dbSNP Id:
rs1555046586
gnomAD v2:
11-118374057-A-C
gnomAD v4:
11-118503342-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503342A>C , CM000673.2:g.118503342A>C | GRCh38 |
| NC_000011.9:g.118374057A>C , CM000673.1:g.118374057A>C | GRCh37 |
| NC_000011.8:g.117879267A>C | NCBI36 |
| NG_027813.1:g.71853A>C , LRG_613:g.71853A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7549A>C | ENSP00000432391.3:p.Asn2517His | |
| ENST00000710560.1:c.7540A>C | ENSP00000518343.1:p.Asn2514His | |
| ENST00000649878.2:c.1489A>C | ENSP00000497891.2:p.Asn497His | |
| ENST00000685397.1:c.1489A>C | ENSP00000509586.1:p.Asn497His | |
| ENST00000686370.1:c.1489A>C | ENSP00000509179.1:p.Asn497His | |
| ENST00000689424.1:c.1747A>C | ENSP00000509852.1:p.Asn583His | |
| ENST00000691053.1:c.7522A>C | ENSP00000509168.1:p.Asn2508His | |
| ENST00000389506.10:c.7441A>C | ENSP00000374157.5:p.Asn2481His | |
| ENST00000528278.2:n.6792A>C | ||
| ENST00000534358.8:c.7450A>C MANE Select | ENSP00000436786.2:p.Asn2484His | |
| ENST00000649699.1:c.7327A>C | ENSP00000496927.1:p.Asn2443His | |
| ENST00000389506.9:c.7441A>C | ENSP00000374157.5:p.Asn2481His | |
| ENST00000528278.1:n.1577A>C | ||
| ENST00000534358.5:c.7450A>C | ENSP00000436786.1:p.Asn2484His | |
| NM_001197104.1:c.7450A>C , LRG_613t1:c.7450A>C | NP_001184033.1:p.Asn2484His | |
| NM_005933.3:c.7441A>C | NP_005924.2:p.Asn2481His | |
| XM_006718839.2:c.4933A>C | XP_006718902.2:p.Asn1645His | |
| XM_011542829.1:c.7549A>C | XP_011541131.1:p.Asn2517His | |
| XM_011542830.1:c.7546A>C | XP_011541132.1:p.Asn2516His | |
| XM_011542831.1:c.7540A>C | XP_011541133.1:p.Asn2514His | |
| XM_011542832.1:c.5356A>C | XP_011541134.1:p.Asn1786His | |
| XM_011542833.1:c.5032A>C | XP_011541135.1:p.Asn1678His | |
| XM_006718839.3:c.4933A>C | XP_006718902.2:p.Asn1645His | |
| XM_011542829.2:c.7549A>C | XP_011541131.1:p.Asn2517His | |
| XM_011542830.2:c.7546A>C | XP_011541132.1:p.Asn2516His | |
| XM_011542831.2:c.7540A>C | XP_011541133.1:p.Asn2514His | |
| XM_011542833.2:c.5032A>C | XP_011541135.1:p.Asn1678His | |
| NM_001197104.2:c.7450A>C MANE Select | NP_001184033.1:p.Asn2484His | |
| NM_005933.4:c.7441A>C | NP_005924.2:p.Asn2481His |