Linked Data
ClinVar Variation Id:
1582896
ClinVar RCV Id:
RCV002097611
dbSNP Id:
rs1456791323
gnomAD v2:
1-210977486-G-A
gnomAD v3:
1-210804144-G-A
gnomAD v4:
1-210804144-G-A
COSMIC:
COSM903440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210804144G>A , CM000663.2:g.210804144G>A | GRCh38 |
| NC_000001.10:g.210977486G>A , CM000663.1:g.210977486G>A | GRCh37 |
| NC_000001.9:g.209044109G>A | NCBI36 |
| NG_029777.1:g.334972C>T | |
| NG_029777.2:g.334972C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1485C>T MANE Select | ENSP00000271751.4:p.Phe495= | |
| ENST00000367007.5:c.1404C>T | ENSP00000355974.5:p.Phe468= | |
| ENST00000638357.1:c.818C>T | ||
| ENST00000638498.1:c.1485C>T | ENSP00000490983.1:p.Phe495= | |
| ENST00000638960.1:c.1404C>T | ENSP00000492302.1:p.Phe468= | |
| ENST00000639952.1:c.1404C>T | ENSP00000492697.1:p.Phe468= | |
| ENST00000640044.1:c.333C>T | ENSP00000491434.1:p.Phe111= | |
| ENST00000640243.1:c.974C>T | ENSP00000492803.1:p.Ser325Leu | |
| ENST00000640522.1:c.1055C>T | ENSP00000491019.1:p.Ser352Leu | |
| ENST00000640528.1:c.1404C>T | ENSP00000491725.1:p.Phe468= | |
| ENST00000640566.1:c.311-28600C>T | ENSP00000491302.1:n.311-28600C>T | |
| ENST00000640710.1:c.1404C>T | ENSP00000492513.1:p.Phe468= | |
| ENST00000271751.8:c.1485C>T | ENSP00000271751.4:p.Phe495= | |
| ENST00000367007.4:c.1404C>T | ENSP00000355974.4:p.Phe468= | |
| NM_002238.3:c.1404C>T | NP_002229.1:p.Phe468= | |
| NM_172362.2:c.1485C>T | NP_758872.1:p.Phe495= | |
| XM_011509514.1:c.309C>T | XP_011507816.1:p.Phe103= | |
| XM_017001246.1:c.309C>T | XP_016856735.1:p.Phe103= | |
| NM_172362.3:c.1485C>T MANE Select | NP_758872.1:p.Phe495= | |
| NM_002238.4:c.1404C>T | NP_002229.1:p.Phe468= |