Linked Data
ClinVar Variation Id:
192253
dbSNP Id:
rs150401343
ExAC:
1:112323335 G / A
gnomAD v2:
1-112323335-G-A
gnomAD v3:
1-111780713-G-A
gnomAD v4:
1-111780713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111780713G>A , CM000663.2:g.111780713G>A | GRCh38 |
| NC_000001.10:g.112323335G>A , CM000663.1:g.112323335G>A | GRCh37 |
| NC_000001.9:g.112124858G>A | NCBI36 |
| NG_032011.2:g.213443C>T , LRG_445:g.213443C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703640.1:n.2039C>T | ||
| ENST00000302127.5:c.1348C>T MANE Select | ENSP00000306923.4:p.Leu450Phe | |
| ENST00000302127.4:c.1348C>T | ENSP00000306923.3:p.Leu450Phe | |
| ENST00000315987.6:c.1348C>T | ENSP00000319591.2:p.Leu450Phe | |
| ENST00000369697.5:c.1348C>T | ENSP00000358711.1:p.Leu450Phe | |
| NM_004980.4:c.1348C>T , LRG_445t1:c.1348C>T | NP_004971.2:p.Leu450Phe | |
| NM_172198.2:c.1348C>T | NP_751948.1:p.Leu450Phe | |
| XM_005270851.3:c.1348C>T | XP_005270908.1:p.Leu450Phe | |
| XM_006710629.2:c.1348C>T | XP_006710692.1:p.Leu450Phe | |
| XM_006710630.2:c.1348C>T | XP_006710693.1:p.Leu450Phe | |
| XM_006710631.2:c.1348C>T | XP_006710694.1:p.Leu450Phe | |
| XM_005270851.4:c.1348C>T | XP_005270908.1:p.Leu450Phe | |
| XM_006710629.4:c.1348C>T | XP_006710692.1:p.Leu450Phe | |
| XM_006710630.3:c.1348C>T | XP_006710693.1:p.Leu450Phe | |
| XM_006710631.3:c.1348C>T | XP_006710694.1:p.Leu450Phe | |
| XM_017001244.2:c.1348C>T | XP_016856733.1:p.Leu450Phe | |
| NM_001378969.1:c.1348C>T MANE Select | NP_001365898.1:p.Leu450Phe | |
| NM_001378970.1:c.1348C>T | NP_001365899.1:p.Leu450Phe | |
| NM_004980.5:c.1348C>T | NP_004971.2:p.Leu450Phe | |
| NM_172198.3:c.1348C>T | NP_751948.1:p.Leu450Phe |