Linked Data
ClinVar Variation Id:
330031
ClinVar RCV Id:
RCV000645634
dbSNP Id:
rs143640165
ExAC:
19:54313564 G / A
gnomAD v2:
19-54313564-G-A
gnomAD v3:
19-53810310-G-A
gnomAD v4:
19-53810310-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53810310G>A , CM000681.2:g.53810310G>A | GRCh38 |
| NC_000019.9:g.54313564G>A , CM000681.1:g.54313564G>A | GRCh37 |
| NC_000019.8:g.59005376G>A | NCBI36 |
| NG_008651.1:g.19085C>T | |
| NG_008651.2:g.19085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.1349C>T | ENSP00000375653.1:p.Pro450Leu | |
| ENST00000324134.11:c.1349C>T MANE Select | ENSP00000319377.6:p.Pro450Leu | |
| ENST00000391773.6:c.1349C>T | ENSP00000375653.1:p.Pro450Leu | |
| ENST00000324134.10:c.1349C>T | ENSP00000319377.6:p.Pro450Leu | |
| ENST00000345770.9:c.1349C>T | ENSP00000341428.5:p.Pro450Leu | |
| ENST00000391772.1:c.1349C>T | ENSP00000375652.1:p.Pro450Leu | |
| ENST00000391773.5:c.1349C>T | ENSP00000375653.1:p.Pro450Leu | |
| ENST00000391775.7:c.1349C>T | ENSP00000375655.3:p.Pro450Leu | |
| NM_001277126.1:c.1349C>T | NP_001264055.1:p.Pro450Leu | |
| NM_001277129.1:c.1349C>T | NP_001264058.1:p.Pro450Leu | |
| NM_144687.3:c.1349C>T | NP_653288.1:p.Pro450Leu | |
| XM_011527478.1:c.1181C>T | XP_011525780.1:p.Pro394Leu | |
| XM_011527479.1:c.1349C>T | XP_011525781.1:p.Pro450Leu | |
| XM_011527480.1:c.1349C>T | XP_011525782.1:p.Pro450Leu | |
| XM_011527481.1:c.1349C>T | XP_011525783.1:p.Pro450Leu | |
| XM_011527482.1:c.1349C>T | XP_011525784.1:p.Pro450Leu | |
| XM_011527483.1:c.1349C>T | XP_011525785.1:p.Pro450Leu | |
| XM_017027460.1:c.1349C>T | XP_016882949.1:p.Pro450Leu | |
| XM_017027461.1:c.1349C>T | XP_016882950.1:p.Pro450Leu | |
| XM_017027462.1:c.1349C>T | XP_016882951.1:p.Pro450Leu | |
| XM_017027463.1:c.932C>T | XP_016882952.1:p.Pro311Leu | |
| XM_017027464.1:c.932C>T | XP_016882953.1:p.Pro311Leu | |
| XM_017027465.1:c.932C>T | XP_016882954.1:p.Pro311Leu | |
| XM_017027466.1:c.932C>T | XP_016882955.1:p.Pro311Leu | |
| XM_017027467.1:c.932C>T | XP_016882956.1:p.Pro311Leu | |
| NM_001277126.2:c.1349C>T | NP_001264055.1:p.Pro450Leu | |
| NM_144687.4:c.1349C>T MANE Select | NP_653288.1:p.Pro450Leu |