Linked Data
dbSNP Id:
rs750789555
ExAC:
4:187205354 T / C
gnomAD v2:
4-187205354-T-C
gnomAD v4:
4-186284200-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284200T>C , CM000666.2:g.186284200T>C | GRCh38 |
| NC_000004.11:g.187205354T>C , CM000666.1:g.187205354T>C | GRCh37 |
| NC_000004.10:g.187442348T>C | NCBI36 |
| NG_008051.1:g.23237T>C , LRG_583:g.23237T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1244T>C MANE Select | ENSP00000384957.2:p.Leu415Pro | |
| ENST00000264692.8:c.1082T>C | ENSP00000264692.5:p.Leu361Pro | |
| ENST00000403665.6:c.1244T>C | ENSP00000384957.2:p.Leu415Pro | |
| NM_000128.3:c.1244T>C , LRG_583t1:c.1244T>C | NP_000119.1:p.Leu415Pro | |
| XM_005262821.2:c.1247T>C | XP_005262878.1:p.Leu416Pro | |
| XM_005262822.2:c.1247T>C | XP_005262879.1:p.Leu416Pro | |
| XM_005262823.2:c.977T>C | XP_005262880.1:p.Leu326Pro | |
| XM_005262824.1:c.1247T>C | XP_005262881.1:p.Leu416Pro | |
| XM_006714137.1:c.1199T>C | XP_006714200.1:p.Leu400Pro | |
| XR_938706.1:n.1652T>C | ||
| XR_938707.1:n.1652T>C | ||
| XM_005262821.4:c.1247T>C | XP_005262878.1:p.Leu416Pro | |
| XM_005262822.4:c.1247T>C | XP_005262879.1:p.Leu416Pro | |
| XM_005262823.4:c.977T>C | XP_005262880.1:p.Leu326Pro | |
| XM_006714137.3:c.1199T>C | XP_006714200.1:p.Leu400Pro | |
| XR_001741172.2:n.1718T>C | ||
| NM_000128.4:c.1244T>C MANE Select | NP_000119.1:p.Leu415Pro |