Linked Data
ClinVar Variation Id:
294710
dbSNP Id:
rs200848930
ExAC:
1:201012575 G / A
gnomAD v2:
1-201012575-G-A
gnomAD v3:
1-201043447-G-A
gnomAD v4:
1-201043447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201043447G>A , CM000663.2:g.201043447G>A | GRCh38 |
| NC_000001.10:g.201012575G>A , CM000663.1:g.201012575G>A | GRCh37 |
| NC_000001.9:g.199279198G>A | NCBI36 |
| NG_009816.1:g.74120C>T | |
| NG_009816.2:g.74120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4882C>T MANE Select | ENSP00000355192.3:p.Leu1628Phe | |
| ENST00000679417.1:c.*4045C>T | ENSP00000506706.1:n.*4045C>T | |
| ENST00000680051.1:n.2008C>T | ||
| ENST00000680059.1:c.*2400C>T | ENSP00000504944.1:n.*2400C>T | |
| ENST00000681078.1:c.*657C>T | ENSP00000506645.1:n.*657C>T | |
| ENST00000681190.1:c.*1064C>T | ENSP00000506428.1:n.*1064C>T | |
| ENST00000681874.1:c.4822C>T | ENSP00000505162.1:p.Leu1608Phe | |
| ENST00000362061.3:c.4882C>T | ENSP00000355192.3:p.Leu1628Phe | |
| ENST00000367338.7:c.4825C>T | ENSP00000356307.3:p.Leu1609Phe | |
| NM_000069.2:c.4882C>T | NP_000060.2:p.Leu1628Phe | |
| XM_005245478.2:c.4825C>T | XP_005245535.1:p.Leu1609Phe | |
| XM_005245478.3:c.4825C>T | XP_005245535.1:p.Leu1609Phe | |
| NM_000069.3:c.4882C>T MANE Select | NP_000060.2:p.Leu1628Phe |