Linked Data
ClinVar Variation Id:
375329
ClinVar RCV Id:
RCV000416409
dbSNP Id:
rs747150601
ExAC:
1:227171308 T / A
gnomAD v2:
1-227171308-T-A
gnomAD v3:
1-226983607-T-A
gnomAD v4:
1-226983607-T-A
PubMed:
PMID:28125198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983607T>A , CM000663.2:g.226983607T>A | GRCh38 |
| NC_000001.10:g.227171308T>A , CM000663.1:g.227171308T>A | GRCh37 |
| NC_000001.9:g.225237931T>A | NCBI36 |
| NG_012825.1:g.48371T>A | |
| NG_012825.2:g.91072T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366777.4:c.1136T>A MANE Select | ENSP00000355739.3:p.Leu379Ter | |
| ENST00000366779.6:c.*5863T>A | ENSP00000355741.2:n.*5863T>A | |
| ENST00000676884.1:c.*5985T>A | ENSP00000503200.1:n.*5985T>A | |
| ENST00000366777.3:c.1136T>A | ENSP00000355739.3:p.Leu379Ter | |
| ENST00000366778.5:c.980T>A | ENSP00000355740.1:p.Leu327Ter | |
| ENST00000366779.5:c.1136T>A | ENSP00000355741.1:p.Leu379Ter | |
| ENST00000478406.5:n.1632T>A | ||
| ENST00000479852.1:n.84T>A | ||
| ENST00000485462.5:n.526T>A | ||
| NM_020247.4:c.1136T>A | NP_064632.2:p.Leu379Ter | |
| XM_005273201.1:c.1136T>A | XP_005273258.1:p.Leu379Ter | |
| XM_011544238.1:c.1136T>A | XP_011542540.1:p.Leu379Ter | |
| XM_011544239.1:c.1136T>A | XP_011542541.1:p.Leu379Ter | |
| XM_011544240.1:c.1136T>A | XP_011542542.1:p.Leu379Ter | |
| XM_011544241.1:c.1136T>A | XP_011542543.1:p.Leu379Ter | |
| XM_011544239.2:c.1136T>A | XP_011542541.1:p.Leu379Ter | |
| XM_011544241.2:c.1136T>A | XP_011542543.1:p.Leu379Ter | |
| XM_017001852.1:c.1136T>A | XP_016857341.1:p.Leu379Ter | |
| XM_024448517.1:c.1136T>A | XP_024304285.1:p.Leu379Ter | |
| XM_024448518.1:c.1136T>A | XP_024304286.1:p.Leu379Ter | |
| NM_020247.5:c.1136T>A MANE Select | NP_064632.2:p.Leu379Ter |