Linked Data
dbSNP Id:
rs779369836
ExAC:
13:113773010 C / G
gnomAD v2:
13-113773010-C-G
gnomAD v4:
13-113118696-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118696C>G , CM000675.2:g.113118696C>G | GRCh38 |
| NC_000013.10:g.113773010C>G , CM000675.1:g.113773010C>G | GRCh37 |
| NC_000013.9:g.112821011C>G | NCBI36 |
| NG_009258.1:g.898C>G , LRG_548:g.898C>G | |
| NG_009262.1:g.17906C>G , LRG_554:g.17906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1023C>G MANE Select | ENSP00000329546.4:p.Pro341= | |
| ENST00000346342.7:c.1023C>G | ENSP00000329546.3:p.Pro341= | |
| ENST00000375581.3:c.1089C>G | ENSP00000364731.3:p.Pro363= | |
| ENST00000541084.5:c.837C>G | ENSP00000442051.2:p.Pro279= | |
| NM_000131.4:c.1089C>G , LRG_554t1:c.1089C>G | NP_000122.1:p.Pro363= | |
| NM_001267554.1:c.837C>G | NP_001254483.1:p.Pro279= | |
| NM_019616.3:c.1023C>G , LRG_554t2:c.1023C>G | NP_062562.1:p.Pro341= | |
| NR_051961.1:n.1110C>G | ||
| XM_006719963.2:c.882C>G | XP_006720026.1:p.Pro294= | |
| XM_011537474.1:c.1131C>G | XP_011535776.1:p.Pro377= | |
| XM_011537475.1:c.945C>G | XP_011535777.1:p.Pro315= | |
| XM_011537476.1:c.783C>G | XP_011535778.1:p.Pro261= | |
| XM_011537477.1:c.1092C>G | XP_011535779.1:p.Pro364= | |
| XM_006719963.3:c.927C>G | XP_006720026.2:p.Pro309= | |
| XM_011537474.2:c.1176C>G | XP_011535776.2:p.Pro392= | |
| XM_011537475.2:c.990C>G | XP_011535777.2:p.Pro330= | |
| XM_011537476.2:c.783C>G | XP_011535778.1:p.Pro261= | |
| NM_019616.4:c.1023C>G MANE Select | NP_062562.1:p.Pro341= | |
| NR_051961.2:n.1107C>G | ||
| NM_001267554.2:c.837C>G | NP_001254483.1:p.Pro279= |