Linked Data
ClinVar Variation Id:
286109
dbSNP Id:
rs137897304
ExAC:
1:220326692 G / A
gnomAD v2:
1-220326692-G-A
gnomAD v3:
1-220153350-G-A
gnomAD v4:
1-220153350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220153350G>A , CM000663.2:g.220153350G>A | GRCh38 |
| NC_000001.10:g.220326692G>A , CM000663.1:g.220326692G>A | GRCh37 |
| NC_000001.9:g.218393315G>A | NCBI36 |
| NG_015837.1:g.124152C>T | |
| NG_015837.2:g.124152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1694C>T | ||
| ENST00000491005.6:n.4728C>T | ||
| ENST00000491305.2:n.4197C>T | ||
| ENST00000685286.1:c.*1027C>T | ENSP00000509457.1:n.*1027C>T | |
| ENST00000685664.1:c.3702C>T | ENSP00000509121.1:p.Val1234= | |
| ENST00000686381.1:c.3438C>T | ENSP00000509555.1:p.Val1146= | |
| ENST00000687065.1:c.3438C>T | ENSP00000510408.1:p.Val1146= | |
| ENST00000687394.1:n.3808C>T | ||
| ENST00000687647.1:c.3438C>T | ENSP00000509205.1:p.Val1146= | |
| ENST00000688035.1:n.6712C>T | ||
| ENST00000690315.1:c.3603C>T | ENSP00000509834.1:p.Val1201= | |
| ENST00000690373.1:n.4041C>T | ||
| ENST00000690824.1:c.3702C>T | ENSP00000510709.1:p.Val1234= | |
| ENST00000691661.1:c.3714C>T | ENSP00000510185.1:p.Val1238= | |
| ENST00000691862.1:c.3600C>T | ENSP00000509291.1:p.Val1200= | |
| ENST00000692813.1:c.3666C>T | ENSP00000509080.1:p.Val1222= | |
| ENST00000692972.1:c.3777C>T | ENSP00000510753.1:p.Val1259= | |
| ENST00000693602.1:n.6288C>T | ||
| ENST00000358951.7:c.3702C>T MANE Select | ENSP00000351832.2:p.Val1234= | |
| ENST00000358951.6:c.3702C>T | ENSP00000351832.2:p.Val1234= | |
| ENST00000474966.1:n.373C>T | ||
| ENST00000491005.5:n.150C>T | ||
| ENST00000491305.1:n.518C>T | ||
| NM_012414.3:c.3702C>T | NP_036546.2:p.Val1234= | |
| NM_012414.4:c.3702C>T MANE Select | NP_036546.2:p.Val1234= |