Linked Data
ClinVar Variation Id:
1424413
ClinVar RCV Id:
RCV001921634
dbSNP Id:
rs775074528
ExAC:
5:226019 T / C
gnomAD v2:
5-226019-T-C
gnomAD v4:
5-225904-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225904T>C , CM000667.2:g.225904T>C | GRCh38 |
| NC_000005.9:g.226019T>C , CM000667.1:g.226019T>C | GRCh37 |
| NC_000005.8:g.279019T>C | NCBI36 |
| NG_012339.1:g.12664T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.478T>C MANE Select | ENSP00000264932.6:p.Phe160Leu | |
| ENST00000651543.1:c.478T>C | ENSP00000499215.1:p.Phe160Leu | |
| ENST00000264932.10:c.478T>C | ENSP00000264932.6:p.Phe160Leu | |
| ENST00000504309.5:c.478T>C | ENSP00000426514.1:p.Phe160Leu | |
| ENST00000504824.5:n.463T>C | ||
| ENST00000505555.5:n.518T>C | ||
| ENST00000509420.5:n.272T>C | ||
| ENST00000510361.5:c.334T>C | ENSP00000427703.1:p.Phe112Leu | |
| ENST00000617470.4:c.380+418T>C | ENSP00000484230.1:n.380+418T>C | |
| NM_001294332.1:c.334T>C | NP_001281261.1:p.Phe112Leu | |
| NM_004168.3:c.478T>C | NP_004159.2:p.Phe160Leu | |
| XM_005248331.2:c.478T>C | XP_005248388.1:p.Phe160Leu | |
| XM_011514072.1:c.478T>C | XP_011512374.1:p.Phe160Leu | |
| XM_011514073.1:c.478T>C | XP_011512375.1:p.Phe160Leu | |
| XR_925638.1:n.611T>C | ||
| NM_001330758.1:c.478T>C | NP_001317687.1:p.Phe160Leu | |
| XM_011514072.2:c.478T>C | XP_011512374.1:p.Phe160Leu | |
| XM_011514073.2:c.478T>C | XP_011512375.1:p.Phe160Leu | |
| XM_017009685.2:c.478T>C | XP_016865174.1:p.Phe160Leu | |
| XM_024446143.1:c.334T>C | XP_024301911.1:p.Phe112Leu | |
| XR_002956167.1:n.525T>C | ||
| NM_004168.4:c.478T>C MANE Select | NP_004159.2:p.Phe160Leu | |
| NM_001294332.2:c.334T>C | NP_001281261.1:p.Phe112Leu | |
| NM_001330758.2:c.478T>C | NP_001317687.1:p.Phe160Leu |