Linked Data
ClinVar Variation Id:
511555
ClinVar RCV Id:
RCV002065240
dbSNP Id:
rs77769511
ExAC:
8:27321183 G / A
gnomAD v2:
8-27321183-G-A
gnomAD v3:
8-27463666-G-A
gnomAD v4:
8-27463666-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463666G>A , CM000670.2:g.27463666G>A | GRCh38 |
| NC_000008.10:g.27321183G>A , CM000670.1:g.27321183G>A | GRCh37 |
| NC_000008.9:g.27377100G>A | NCBI36 |
| NG_015827.1:g.20631C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407991.3:c.777C>T MANE Select | ENSP00000385026.1:p.Phe259= | |
| ENST00000637241.1:c.*607C>T | ENSP00000490690.1:n.*607C>T | |
| ENST00000240132.7:c.732C>T | ENSP00000240132.2:p.Phe244= | |
| ENST00000407991.2:c.777C>T | ENSP00000385026.1:p.Phe259= | |
| ENST00000520600.1:n.290-1912C>T | ||
| ENST00000520933.7:c.711C>T | ENSP00000429616.2:p.Phe237= | |
| ENST00000522008.1:n.507C>T | ||
| ENST00000523695.5:c.*179C>T | ENSP00000430612.1:n.*179C>T | |
| NM_000742.3:c.777C>T | NP_000733.2:p.Phe259= | |
| NM_001282455.1:c.732C>T | NP_001269384.1:p.Phe244= | |
| XM_005273397.1:c.300C>T | XP_005273454.1:p.Phe100= | |
| XM_006716282.1:c.777C>T | XP_006716345.1:p.Phe259= | |
| XM_011544388.1:c.777C>T | XP_011542690.1:p.Phe259= | |
| XM_011544389.1:c.183C>T | XP_011542691.1:p.Phe61= | |
| NM_001347705.1:c.300C>T | NP_001334634.1:p.Phe100= | |
| NM_001347706.1:c.300C>T | NP_001334635.1:p.Phe100= | |
| NM_001347707.1:c.183C>T | NP_001334636.1:p.Phe61= | |
| NM_001347708.1:c.183C>T | NP_001334637.1:p.Phe61= | |
| XM_011544389.2:c.183C>T | XP_011542691.1:p.Phe61= | |
| NM_000742.4:c.777C>T MANE Select | NP_000733.2:p.Phe259= | |
| NM_001282455.2:c.732C>T | NP_001269384.1:p.Phe244= | |
| NM_001347705.2:c.300C>T | NP_001334634.1:p.Phe100= | |
| NM_001347706.2:c.300C>T | NP_001334635.1:p.Phe100= | |
| NM_001347707.2:c.183C>T | NP_001334636.1:p.Phe61= | |
| NM_001347708.2:c.183C>T | NP_001334637.1:p.Phe61= |