Linked Data
ClinVar Variation Id:
48054
ClinVar RCV Id:
RCV000041336
RCV000234314
RCV000769733
RCV001701583
RCV001173409
RCV002408539
RCV003996460
dbSNP Id:
rs143189394
ExAC:
1:156108431 C / T
gnomAD v2:
1-156108431-C-T
gnomAD v3:
1-156138640-C-T
gnomAD v4:
1-156138640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138640C>T , CM000663.2:g.156138640C>T | GRCh38 |
| NC_000001.10:g.156108431C>T , CM000663.1:g.156108431C>T | GRCh37 |
| NC_000001.9:g.154375055C>T | NCBI36 |
| NG_008692.2:g.61068C>T , LRG_254:g.61068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1293C>T | ENSP00000426535.3:p.Ala431= | |
| ENST00000682650.1:c.1761C>T | ENSP00000506904.1:p.Ala587= | |
| ENST00000683032.1:c.1851C>T | ENSP00000506771.1:p.Ala617= | |
| ENST00000683773.1:n.163+33C>T | ||
| ENST00000684195.1:c.*943C>T | ENSP00000508220.1:n.*943C>T | |
| ENST00000361308.9:c.1851C>T | ENSP00000355292.6:p.Ala617= | |
| ENST00000368300.9:c.1851C>T MANE Select | ENSP00000357283.4:p.Ala617= | |
| ENST00000674518.1:c.*1201C>T | ENSP00000502261.1:n.*1201C>T | |
| ENST00000674600.1:c.*1650C>T | ENSP00000501666.1:n.*1650C>T | |
| ENST00000675455.1:c.*1651C>T | ENSP00000501795.1:n.*1651C>T | |
| ENST00000675667.1:c.1851C>T | ENSP00000501803.1:p.Ala617= | |
| ENST00000675874.1:c.*1322C>T | ENSP00000501851.1:n.*1322C>T | |
| ENST00000675881.1:c.*862C>T | ENSP00000501670.1:n.*862C>T | |
| ENST00000675939.1:c.1851C>T | ENSP00000502256.1:p.Ala617= | |
| ENST00000675989.1:n.3454C>T | ||
| ENST00000676208.1:c.*954C>T | ENSP00000502468.1:n.*954C>T | |
| ENST00000676385.2:c.1761C>T | ENSP00000502091.1:p.Ala587= | |
| ENST00000676434.1:c.*1606C>T | ENSP00000501648.1:n.*1606C>T | |
| ENST00000347559.6:c.1761C>T | ENSP00000292304.3:p.Ala587= | |
| ENST00000368299.7:c.1818+33C>T | ENSP00000357282.3:n.1818+33C>T | |
| ENST00000368300.8:c.1851C>T | ENSP00000357283.4:p.Ala617= | |
| ENST00000448611.6:c.1515C>T | ENSP00000395597.2:p.Ala505= | |
| ENST00000473598.6:c.1554C>T | ENSP00000421821.1:p.Ala518= | |
| ENST00000496738.5:n.2064C>T | ||
| ENST00000506981.1:n.435C>T | ||
| ENST00000508500.1:c.639C>T | ENSP00000424977.1:p.Ala213= | |
| NM_001257374.2:c.1515C>T | NP_001244303.1:p.Ala505= | |
| NM_001282626.1:c.1818+33C>T | NP_001269555.1:n.1818+33C>T | |
| NM_170707.3:c.1851C>T | NP_733821.1:p.Ala617= | |
| NM_170708.3:c.1761C>T | NP_733822.1:p.Ala587= | |
| XM_011509533.1:c.1515C>T | XP_011507835.1:p.Ala505= | |
| XM_011509534.1:c.1227C>T | XP_011507836.1:p.Ala409= | |
| XR_921781.1:n.2140C>T | ||
| XM_011509534.2:c.1227C>T | XP_011507836.1:p.Ala409= | |
| XR_921781.2:n.2138C>T | ||
| NM_170707.4:c.1851C>T MANE Select | NP_733821.1:p.Ala617= | |
| NM_001257374.3:c.1515C>T | NP_001244303.1:p.Ala505= | |
| NM_001282626.2:c.1818+33C>T | NP_001269555.1:n.1818+33C>T | |
| NM_170708.4:c.1761C>T | NP_733822.1:p.Ala587= |