Linked Data
ClinVar Variation Id:
246560
dbSNP Id:
rs201805333
ExAC:
5:148392185 G / A
gnomAD v2:
5-148392185-G-A
gnomAD v3:
5-149012622-G-A
gnomAD v4:
5-149012622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149012622G>A , CM000667.2:g.149012622G>A | GRCh38 |
| NC_000005.9:g.148392185G>A , CM000667.1:g.148392185G>A | GRCh37 |
| NC_000005.8:g.148372378G>A | NCBI36 |
| NG_007947.2:g.55553C>T , LRG_269:g.55553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3062C>T | ||
| ENST00000515425.6:c.3166C>T MANE Select | ENSP00000423660.1:p.Leu1056Phe | |
| ENST00000675793.1:c.*2450C>T | ENSP00000502039.1:n.*2450C>T | |
| ENST00000676056.1:c.*2817C>T | ENSP00000501827.1:n.*2817C>T | |
| ENST00000323829.9:c.*2554C>T | ENSP00000313025.5:n.*2554C>T | |
| ENST00000504517.5:c.2696C>T | ENSP00000421779.1:n.2696C>T | |
| ENST00000504690.5:c.3166C>T | ENSP00000425627.1:p.Leu1056Phe | |
| ENST00000510779.1:c.2216C>T | ||
| ENST00000512049.5:c.3145C>T | ENSP00000421860.1:p.Leu1049Phe | |
| ENST00000515425.5:c.3166C>T | ENSP00000423660.1:p.Leu1056Phe | |
| NM_024577.3:c.3166C>T , LRG_269t1:c.3166C>T | NP_078853.2:p.Leu1056Phe | |
| NM_024577.4:c.3166C>T MANE Select | NP_078853.2:p.Leu1056Phe |