Linked Data
dbSNP Id:
rs150061718
ExAC:
13:99038001 C / T
gnomAD v2:
13-99038001-C-T
gnomAD v3:
13-98385747-C-T
gnomAD v4:
13-98385747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98385747C>T , CM000675.2:g.98385747C>T | GRCh38 |
| NC_000013.10:g.99038001C>T , CM000675.1:g.99038001C>T | GRCh37 |
| NC_000013.9:g.97836002C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319562.11:c.692C>T MANE Select | ENSP00000322926.6:p.Pro231Leu | |
| ENST00000596580.2:c.692C>T | ENSP00000490391.1:p.Pro231Leu | |
| ENST00000319562.10:c.692C>T | ENSP00000322926.6:p.Pro231Leu | |
| ENST00000490389.1:n.565C>T | ||
| ENST00000593548.1:n.745C>T | ||
| ENST00000595380.5:n.453C>T | ||
| ENST00000595437.5:c.692C>T | ENSP00000471242.1:p.Pro231Leu | |
| ENST00000596467.5:n.551C>T | ||
| ENST00000599040.5:c.23C>T | ENSP00000469420.1:p.Pro8Leu | |
| ENST00000601009.1:c.294C>T | ||
| ENST00000602263.5:n.848C>T | ||
| ENST00000627049.2:c.692C>T | ENSP00000486285.1:p.Pro231Leu | |
| NM_001286839.1:c.692C>T | NP_001273768.1:p.Pro231Leu | |
| NM_005766.3:c.692C>T | NP_005757.1:p.Pro231Leu | |
| XM_011521046.1:c.692C>T | XP_011519348.1:p.Pro231Leu | |
| XM_011521046.2:c.692C>T | XP_011519348.1:p.Pro231Leu | |
| XM_017020312.1:c.692C>T | XP_016875801.1:p.Pro231Leu | |
| XM_017020313.2:c.539C>T | XP_016875802.1:p.Pro180Leu | |
| NM_001286839.2:c.692C>T | NP_001273768.1:p.Pro231Leu | |
| NM_005766.4:c.692C>T MANE Select | NP_005757.1:p.Pro231Leu |