Linked Data
ClinVar Variation Id:
313320
ClinVar RCV Id:
RCV000378008
dbSNP Id:
rs766875279
ExAC:
14:51375636 G / T
gnomAD v2:
14-51375636-G-T
gnomAD v3:
14-50908918-G-T
gnomAD v4:
14-50908918-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50908918G>T , CM000676.2:g.50908918G>T | GRCh38 |
| NC_000014.8:g.51375636G>T , CM000676.1:g.51375636G>T | GRCh37 |
| NC_000014.7:g.50445386G>T | NCBI36 |
| NG_012796.1:g.40613C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2215C>A MANE Select | ENSP00000216392.7:p.Leu739Met | |
| ENST00000216392.7:c.2215C>A | ENSP00000216392.7:p.Leu739Met | |
| ENST00000532107.2:n.388C>A | ||
| ENST00000532462.5:c.2215C>A | ENSP00000431657.1:p.Leu739Met | |
| ENST00000544180.6:c.2113C>A | ENSP00000443787.1:p.Leu705Met | |
| NM_001163940.1:c.2113C>A | NP_001157412.1:p.Leu705Met | |
| NM_002863.4:c.2215C>A | NP_002854.3:p.Leu739Met | |
| NM_002863.5:c.2215C>A MANE Select | NP_002854.3:p.Leu739Met | |
| NM_001163940.2:c.2113C>A | NP_001157412.1:p.Leu705Met |