Linked Data
ClinVar Variation Id:
2976397
ClinVar RCV Id:
RCV003836547
dbSNP Id:
rs751069999
gnomAD v4:
4-186194502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194502T>C , CM000666.2:g.186194502T>C | GRCh38 |
| NC_000004.11:g.187115656T>C , CM000666.1:g.187115656T>C | GRCh37 |
| NC_000004.10:g.187352650T>C | NCBI36 |
| NG_007965.1:g.7983T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.217T>C MANE Select | ENSP00000368079.4:p.Phe73Leu | |
| ENST00000378802.4:c.217T>C | ENSP00000368079.4:p.Phe73Leu | |
| NM_207352.3:c.217T>C | NP_997235.3:p.Phe73Leu | |
| XM_005262935.2:c.217T>C | XP_005262992.1:p.Phe73Leu | |
| XM_005262935.4:c.217T>C | XP_005262992.1:p.Phe73Leu | |
| XM_017008037.1:c.-94T>C | XP_016863526.1:n.-94T>C | |
| NM_207352.4:c.217T>C MANE Select | NP_997235.3:p.Phe73Leu |