Linked Data
ClinVar Variation Id:
2466877
ClinVar RCV Id:
RCV003196926
dbSNP Id:
rs201028513
ExAC:
7:5680927 C / A
gnomAD v2:
7-5680927-C-A
gnomAD v3:
7-5641296-C-A
gnomAD v4:
7-5641296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641296C>A , CM000669.2:g.5641296C>A | GRCh38 |
| NC_000007.13:g.5680927C>A , CM000669.1:g.5680927C>A | GRCh37 |
| NC_000007.12:g.5647453C>A | NCBI36 |
| NG_029374.1:g.145435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2240G>T MANE Select | ENSP00000374552.3:p.Arg747Leu | |
| ENST00000389900.8:c.*1357G>T | ENSP00000374550.4:n.*1357G>T | |
| ENST00000389902.7:c.2240G>T | ENSP00000374552.3:p.Arg747Leu | |
| ENST00000425013.6:c.2069G>T | ENSP00000404602.2:p.Arg690Leu | |
| ENST00000469375.1:n.457G>T | ||
| NM_207111.3:c.2240G>T | NP_996994.1:p.Arg747Leu | |
| NM_207116.2:c.2069G>T | NP_996999.1:p.Arg690Leu | |
| XM_005249785.2:c.2240G>T | XP_005249842.1:p.Arg747Leu | |
| XM_006715748.1:c.935G>T | XP_006715811.1:p.Arg312Leu | |
| XM_011515434.1:c.2240G>T | XP_011513736.1:p.Arg747Leu | |
| XM_011515436.1:c.935G>T | XP_011513738.1:p.Arg312Leu | |
| XM_011515436.2:c.935G>T | XP_011513738.1:p.Arg312Leu | |
| XM_017012363.2:c.2069G>T | XP_016867852.1:p.Arg690Leu | |
| XM_024446805.1:c.2240G>T | XP_024302573.1:p.Arg747Leu | |
| XM_024446806.1:c.935G>T | XP_024302574.1:p.Arg312Leu | |
| XM_024446807.1:c.935G>T | XP_024302575.1:p.Arg312Leu | |
| NM_001377156.1:c.2069G>T | NP_001364085.1:p.Arg690Leu | |
| NM_207111.4:c.2240G>T MANE Select | NP_996994.1:p.Arg747Leu | |
| NM_207116.3:c.2069G>T | NP_996999.1:p.Arg690Leu |