Linked Data
dbSNP Id:
rs11195062
gnomAD v2:
10-112036975-C-A
gnomAD v3:
10-110277217-C-A
gnomAD v4:
10-110277217-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110277217C>A , CM000672.2:g.110277217C>A | GRCh38 |
| NC_000010.10:g.112036975C>A , CM000672.1:g.112036975C>A | GRCh37 |
| NC_000010.9:g.112026965C>A | NCBI36 |
| NG_012103.1:g.74613C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485566.2:n.365-1963C>A | ||
| ENST00000650644.1:c.129-1963C>A | ENSP00000498900.1:n.129-1963C>A | |
| ENST00000650696.1:c.129-1963C>A | ENSP00000499158.1:n.129-1963C>A | |
| ENST00000650752.1:c.*126-1963C>A | ENSP00000499134.1:n.*126-1963C>A | |
| ENST00000650810.1:c.129-1963C>A | ENSP00000498390.1:n.129-1963C>A | |
| ENST00000650843.1:c.129-1963C>A | ENSP00000498547.1:n.129-1963C>A | |
| ENST00000650900.1:c.129-1963C>A | ENSP00000499209.1:n.129-1963C>A | |
| ENST00000650952.1:c.129-1963C>A | ENSP00000499161.1:n.129-1963C>A | |
| ENST00000651004.1:c.129-1963C>A | ENSP00000498396.1:n.129-1963C>A | |
| ENST00000651109.1:c.*126-1963C>A | ENSP00000498214.1:n.*126-1963C>A | |
| ENST00000651112.1:c.30-1963C>A | ENSP00000498951.1:n.30-1963C>A | |
| ENST00000651167.1:c.129-1963C>A | ENSP00000498764.1:n.129-1963C>A | |
| ENST00000651225.1:c.*226-1963C>A | ENSP00000498220.1:n.*226-1963C>A | |
| ENST00000651318.1:c.*126-1963C>A | ENSP00000498911.1:n.*126-1963C>A | |
| ENST00000651467.1:c.129-1963C>A | ENSP00000499128.1:n.129-1963C>A | |
| ENST00000651495.1:c.129-1963C>A | ENSP00000498536.1:n.129-1963C>A | |
| ENST00000651516.1:c.129-1963C>A | ENSP00000498873.1:n.129-1963C>A | |
| ENST00000651557.1:c.*13-1963C>A | ENSP00000498474.1:n.*13-1963C>A | |
| ENST00000651613.1:c.129-1963C>A | ENSP00000498554.1:n.129-1963C>A | |
| ENST00000651811.1:c.129-1963C>A | ENSP00000498472.1:n.129-1963C>A | |
| ENST00000651848.1:c.129-1963C>A | ENSP00000498238.1:n.129-1963C>A | |
| ENST00000651866.1:c.129-1963C>A | ENSP00000498306.1:n.129-1963C>A | |
| ENST00000652028.1:c.129-1963C>A | ENSP00000498928.1:n.129-1963C>A | |
| ENST00000652243.1:c.*126-1963C>A | ENSP00000498409.1:n.*126-1963C>A | |
| ENST00000652323.1:c.*1-1963C>A | ENSP00000498637.1:n.*1-1963C>A | |
| ENST00000652463.1:c.129-1963C>A | ENSP00000499087.1:n.129-1963C>A | |
| ENST00000652506.1:c.129-1963C>A | ENSP00000498573.1:n.129-1963C>A | |
| ENST00000652604.1:c.99-1963C>A | ENSP00000498971.1:n.99-1963C>A | |
| ENST00000652649.1:c.*190-1963C>A | ENSP00000499130.1:n.*190-1963C>A | |
| ENST00000239007.11:c.237-1963C>A | ENSP00000239007.7:n.237-1963C>A | |
| ENST00000332674.9:c.438-1963C>A MANE Select | ENSP00000331152.5:n.438-1963C>A | |
| ENST00000361248.8:c.99-1963C>A | ENSP00000354606.4:n.99-1963C>A | |
| ENST00000369612.1:c.129-1963C>A | ENSP00000358625.1:n.129-1963C>A | |
| ENST00000393134.5:c.207-1963C>A | ENSP00000376842.1:n.207-1963C>A | |
| ENST00000442296.5:c.129-1963C>A | ENSP00000407711.1:n.129-1963C>A | |
| ENST00000453116.5:c.408-1963C>A | ENSP00000398981.1:n.408-1963C>A | |
| ENST00000460667.5:n.429-1963C>A | ||
| ENST00000484030.5:n.261-1963C>A | ||
| ENST00000485566.1:n.786-1963C>A | ||
| NM_001008541.1:c.99-1963C>A | NP_001008541.1:n.99-1963C>A | |
| NM_005962.4:c.237-1963C>A | NP_005953.4:n.237-1963C>A | |
| NM_130439.3:c.438-1963C>A MANE Select | NP_569157.2:n.438-1963C>A | |
| NM_005962.5:c.237-1963C>A | NP_005953.4:n.237-1963C>A |