Linked Data
dbSNP Id:
rs776615205
ExAC:
13:113772853 C / T
gnomAD v2:
13-113772853-C-T
gnomAD v4:
13-113118539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118539C>T , CM000675.2:g.113118539C>T | GRCh38 |
| NC_000013.10:g.113772853C>T , CM000675.1:g.113772853C>T | GRCh37 |
| NC_000013.9:g.112820854C>T | NCBI36 |
| NG_009258.1:g.741C>T , LRG_548:g.741C>T | |
| NG_009262.1:g.17749C>T , LRG_554:g.17749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.866C>T MANE Select | ENSP00000329546.4:p.Pro289Leu | |
| ENST00000346342.7:c.866C>T | ENSP00000329546.3:p.Pro289Leu | |
| ENST00000375581.3:c.932C>T | ENSP00000364731.3:p.Pro311Leu | |
| ENST00000541084.5:c.680C>T | ENSP00000442051.2:p.Pro227Leu | |
| NM_000131.4:c.932C>T , LRG_554t1:c.932C>T | NP_000122.1:p.Pro311Leu | |
| NM_001267554.1:c.680C>T | NP_001254483.1:p.Pro227Leu | |
| NM_019616.3:c.866C>T , LRG_554t2:c.866C>T | NP_062562.1:p.Pro289Leu | |
| NR_051961.1:n.953C>T | ||
| XM_006719963.2:c.725C>T | XP_006720026.1:p.Pro242Leu | |
| XM_011537474.1:c.974C>T | XP_011535776.1:p.Pro325Leu | |
| XM_011537475.1:c.788C>T | XP_011535777.1:p.Pro263Leu | |
| XM_011537476.1:c.626C>T | XP_011535778.1:p.Pro209Leu | |
| XM_011537477.1:c.935C>T | XP_011535779.1:p.Pro312Leu | |
| XM_006719963.3:c.770C>T | XP_006720026.2:p.Pro257Leu | |
| XM_011537474.2:c.1019C>T | XP_011535776.2:p.Pro340Leu | |
| XM_011537475.2:c.833C>T | XP_011535777.2:p.Pro278Leu | |
| XM_011537476.2:c.626C>T | XP_011535778.1:p.Pro209Leu | |
| NM_019616.4:c.866C>T MANE Select | NP_062562.1:p.Pro289Leu | |
| NR_051961.2:n.950C>T | ||
| NM_001267554.2:c.680C>T | NP_001254483.1:p.Pro227Leu |