Linked Data
ClinVar Variation Id:
211987
dbSNP Id:
rs145701892
ExAC:
1:220330642 G / A
gnomAD v2:
1-220330642-G-A
gnomAD v3:
1-220157300-G-A
gnomAD v4:
1-220157300-G-A
COSMIC:
COSM1338980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220157300G>A , CM000663.2:g.220157300G>A | GRCh38 |
| NC_000001.10:g.220330642G>A , CM000663.1:g.220330642G>A | GRCh37 |
| NC_000001.9:g.218397265G>A | NCBI36 |
| NG_015837.1:g.120202C>T | |
| NG_015837.2:g.120202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1517C>T | ||
| ENST00000491005.6:n.1339C>T | ||
| ENST00000491305.2:n.808C>T | ||
| ENST00000685286.1:c.*850C>T | ENSP00000509457.1:n.*850C>T | |
| ENST00000685664.1:c.3525C>T | ENSP00000509121.1:p.Thr1175= | |
| ENST00000686381.1:c.3261C>T | ENSP00000509555.1:p.Thr1087= | |
| ENST00000687065.1:c.3261C>T | ENSP00000510408.1:p.Thr1087= | |
| ENST00000687394.1:n.3631C>T | ||
| ENST00000687647.1:c.3261C>T | ENSP00000509205.1:p.Thr1087= | |
| ENST00000688035.1:n.6535C>T | ||
| ENST00000690315.1:c.3426C>T | ENSP00000509834.1:p.Thr1142= | |
| ENST00000690373.1:n.3864C>T | ||
| ENST00000690824.1:c.3525C>T | ENSP00000510709.1:p.Thr1175= | |
| ENST00000691661.1:c.3537C>T | ENSP00000510185.1:p.Thr1179= | |
| ENST00000691862.1:c.3423C>T | ENSP00000509291.1:p.Thr1141= | |
| ENST00000692813.1:c.3489C>T | ENSP00000509080.1:p.Thr1163= | |
| ENST00000692972.1:c.3600C>T | ENSP00000510753.1:p.Thr1200= | |
| ENST00000693602.1:n.6111C>T | ||
| ENST00000358951.7:c.3525C>T MANE Select | ENSP00000351832.2:p.Thr1175= | |
| ENST00000358951.6:c.3525C>T | ENSP00000351832.2:p.Thr1175= | |
| NM_012414.3:c.3525C>T | NP_036546.2:p.Thr1175= | |
| NM_012414.4:c.3525C>T MANE Select | NP_036546.2:p.Thr1175= |