Linked Data
ClinVar Variation Id:
544358
ClinVar RCV Id:
RCV000655478
dbSNP Id:
rs749126712
ExAC:
1:16053818 C / T
gnomAD v2:
1-16053818-C-T
gnomAD v3:
1-15727323-C-T
gnomAD v4:
1-15727323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15727323C>T , CM000663.2:g.15727323C>T | GRCh38 |
| NC_000001.10:g.16053818C>T , CM000663.1:g.16053818C>T | GRCh37 |
| NC_000001.9:g.15926405C>T | NCBI36 |
| NG_053033.1:g.50818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375799.8:c.1251C>T MANE Select | ENSP00000364956.3:p.Leu417= | |
| ENST00000642363.1:c.1128C>T | ENSP00000494591.1:p.Leu376= | |
| ENST00000375793.2:c.1191C>T | ENSP00000364950.2:p.Leu397= | |
| ENST00000375799.7:c.1251C>T | ENSP00000364956.3:p.Leu417= | |
| NM_015164.2:c.1251C>T | NP_055979.2:p.Leu417= | |
| XM_005245790.2:c.1191C>T | XP_005245847.1:p.Leu397= | |
| XM_005245791.3:c.642C>T | XP_005245848.1:p.Leu214= | |
| XR_946590.1:n.1543C>T | ||
| NM_015164.3:c.1251C>T | NP_055979.2:p.Leu417= | |
| XM_005245790.4:c.1191C>T | XP_005245847.1:p.Leu397= | |
| XM_005245791.4:c.642C>T | XP_005245848.1:p.Leu214= | |
| XM_017000757.1:c.1290C>T | XP_016856246.1:p.Leu430= | |
| XM_017000758.1:c.1230C>T | XP_016856247.1:p.Leu410= | |
| NM_015164.4:c.1251C>T MANE Select | NP_055979.2:p.Leu417= |