Linked Data
dbSNP Id:
rs753388562
ExAC:
10:50679062 G / A
gnomAD v2:
10-50679062-G-A
gnomAD v3:
10-49471016-G-A
gnomAD v4:
10-49471016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471016G>A , CM000672.2:g.49471016G>A | GRCh38 |
| NC_000010.10:g.50679062G>A , CM000672.1:g.50679062G>A | GRCh37 |
| NC_000010.9:g.50349068G>A | NCBI36 |
| NG_009442.1:g.73086C>T , LRG_465:g.73086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3029C>T MANE Select | ENSP00000348089.5:p.Pro1010Leu | |
| ENST00000679552.1:n.142-127C>T | ||
| ENST00000679871.1:n.175C>T | ||
| ENST00000679974.1:n.120-127C>T | ||
| ENST00000681632.1:n.4432C>T | ||
| ENST00000681659.1:c.2870C>T | ENSP00000505631.1:p.Pro957Leu | |
| ENST00000355832.9:c.3029C>T | ENSP00000348089.5:p.Pro1010Leu | |
| ENST00000623073.3:c.*1325C>T | ENSP00000485650.1:n.*1325C>T | |
| ENST00000623115.3:c.1139C>T | ENSP00000485321.1:p.Pro380Leu | |
| ENST00000624341.3:c.861C>T | ||
| NM_000124.3:c.3029C>T | NP_000115.1:p.Pro1010Leu | |
| XR_945953.1:n.243-549G>A | ||
| NM_001346440.1:c.3029C>T | NP_001333369.1:p.Pro1010Leu | |
| NM_000124.4:c.3029C>T MANE Select | NP_000115.1:p.Pro1010Leu | |
| NM_001346440.2:c.3029C>T | NP_001333369.1:p.Pro1010Leu |