Linked Data
ClinVar Variation Id:
211991
dbSNP Id:
rs778754576
ExAC:
1:220384149 G / A
gnomAD v2:
1-220384149-G-A
gnomAD v3:
1-220210807-G-A
gnomAD v4:
1-220210807-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220210807G>A , CM000663.2:g.220210807G>A | GRCh38 |
| NC_000001.10:g.220384149G>A , CM000663.1:g.220384149G>A | GRCh37 |
| NC_000001.9:g.218450772G>A | NCBI36 |
| NG_015837.1:g.66695C>T | |
| NG_015837.2:g.66695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.504C>T | ENSP00000509457.1:p.Tyr168= | |
| ENST00000685664.1:c.504C>T | ENSP00000509121.1:p.Tyr168= | |
| ENST00000686381.1:c.240C>T | ENSP00000509555.1:p.Tyr80= | |
| ENST00000687065.1:c.240C>T | ENSP00000510408.1:p.Tyr80= | |
| ENST00000687394.1:n.610C>T | ||
| ENST00000687647.1:c.240C>T | ENSP00000509205.1:p.Tyr80= | |
| ENST00000688035.1:n.608C>T | ||
| ENST00000688281.1:n.534C>T | ||
| ENST00000688904.1:n.876C>T | ||
| ENST00000689820.1:c.504C>T | ENSP00000509387.1:p.Tyr168= | |
| ENST00000690315.1:c.504C>T | ENSP00000509834.1:p.Tyr168= | |
| ENST00000690373.1:n.532C>T | ||
| ENST00000690379.1:n.534C>T | ||
| ENST00000690824.1:c.504C>T | ENSP00000510709.1:p.Tyr168= | |
| ENST00000691661.1:c.516C>T | ENSP00000510185.1:p.Tyr172= | |
| ENST00000691862.1:c.504C>T | ENSP00000509291.1:p.Tyr168= | |
| ENST00000692208.1:n.591C>T | ||
| ENST00000692813.1:c.504C>T | ENSP00000509080.1:p.Tyr168= | |
| ENST00000692972.1:c.504C>T | ENSP00000510753.1:p.Tyr168= | |
| ENST00000693602.1:n.597C>T | ||
| ENST00000358951.7:c.504C>T MANE Select | ENSP00000351832.2:p.Tyr168= | |
| ENST00000237724.9:n.305+148C>T | ||
| ENST00000358951.6:c.504C>T | ENSP00000351832.2:p.Tyr168= | |
| ENST00000474178.1:c.*49C>T | ENSP00000420156.1:n.*49C>T | |
| ENST00000478976.1:n.292-20382C>T | ||
| ENST00000484658.1:c.208C>T | ||
| NM_012414.3:c.504C>T | NP_036546.2:p.Tyr168= | |
| NM_012414.4:c.504C>T MANE Select | NP_036546.2:p.Tyr168= |