Linked Data
ClinVar Variation Id:
2522330
ClinVar RCV Id:
RCV004297502
dbSNP Id:
rs45542341
ExAC:
17:1377938 C / A
gnomAD v2:
17-1377938-C-A
gnomAD v3:
17-1474644-C-A
gnomAD v4:
17-1474644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1474644C>A , CM000679.2:g.1474644C>A | GRCh38 |
| NC_000017.10:g.1377938C>A , CM000679.1:g.1377938C>A | GRCh37 |
| NC_000017.9:g.1324688C>A | NCBI36 |
| NG_047063.1:g.23064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361007.7:c.1658G>T | ENSP00000354283.2:p.Arg553Leu | |
| ENST00000570984.7:c.1658G>T | ENSP00000459271.3:p.Arg553Leu | |
| ENST00000646049.1:c.1658G>T | ENSP00000493973.1:p.Arg553Leu | |
| ENST00000648446.1:c.1706G>T | ENSP00000496799.1:p.Arg569Leu | |
| ENST00000648651.1:c.1763G>T MANE Select | ENSP00000496954.1:p.Arg588Leu | |
| ENST00000359786.9:c.1763G>T | ENSP00000352834.5:p.Arg588Leu | |
| ENST00000361007.6:c.1658G>T | ENSP00000354283.2:p.Arg553Leu | |
| ENST00000438665.6:c.1706G>T | ENSP00000412197.2:p.Arg569Leu | |
| ENST00000545534.6:c.1691G>T | ENSP00000437685.2:p.Arg564Leu | |
| ENST00000571615.1:n.167G>T | ||
| ENST00000575158.5:c.1658G>T | ENSP00000459174.1:p.Arg553Leu | |
| NM_001080779.1:c.1763G>T | NP_001074248.1:p.Arg588Leu | |
| NM_001080950.1:c.1706G>T | NP_001074419.1:p.Arg569Leu | |
| NM_033375.4:c.1658G>T | NP_203693.3:p.Arg553Leu | |
| NM_001363855.1:c.1691G>T | NP_001350784.1:p.Arg564Leu | |
| XM_024450768.1:c.1658G>T | XP_024306536.1:p.Arg553Leu | |
| XM_024450769.1:c.1658G>T | XP_024306537.1:p.Arg553Leu | |
| NM_001080779.2:c.1763G>T MANE Select | NP_001074248.1:p.Arg588Leu | |
| NM_001080950.2:c.1706G>T | NP_001074419.1:p.Arg569Leu | |
| NM_033375.5:c.1658G>T | NP_203693.3:p.Arg553Leu |