Linked Data
ClinVar Variation Id:
708204
ClinVar RCV Id:
RCV000879422
dbSNP Id:
rs151200827
ExAC:
7:120428731 A / G
gnomAD v2:
7-120428731-A-G
gnomAD v3:
7-120788677-A-G
gnomAD v4:
7-120788677-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788677A>G , CM000669.2:g.120788677A>G | GRCh38 |
| NC_000007.13:g.120428731A>G , CM000669.1:g.120428731A>G | GRCh37 |
| NC_000007.12:g.120215967A>G | NCBI36 |
| NG_023203.1:g.74447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222747.8:c.833T>C MANE Select | ENSP00000222747.3:p.Leu278Pro | |
| ENST00000222747.7:c.833T>C | ENSP00000222747.3:p.Leu278Pro | |
| ENST00000415871.5:c.833T>C | ENSP00000397699.1:p.Leu278Pro | |
| ENST00000450414.5:c.812T>C | ENSP00000397411.1:n.812T>C | |
| NM_012338.3:c.833T>C | NP_036470.1:p.Leu278Pro | |
| XM_005250239.1:c.833T>C | XP_005250296.1:p.Leu278Pro | |
| XM_011515993.1:c.833T>C | XP_011514295.1:p.Leu278Pro | |
| XM_011515994.1:c.833T>C | XP_011514296.1:p.Leu278Pro | |
| XM_005250239.3:c.833T>C | XP_005250296.1:p.Leu278Pro | |
| XM_017011913.1:c.758T>C | XP_016867402.1:p.Leu253Pro | |
| NM_012338.4:c.833T>C MANE Select | NP_036470.1:p.Leu278Pro |