MyVariant.info:
GRCh37
chr4:g.187205268C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284114C>G , CM000666.2:g.186284114C>G | GRCh38 |
| NC_000004.11:g.187205268C>G , CM000666.1:g.187205268C>G | GRCh37 |
| NC_000004.10:g.187442262C>G | NCBI36 |
| NG_008051.1:g.23151C>G , LRG_583:g.23151C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1158C>G MANE Select | ENSP00000384957.2:p.Pro386= | |
| ENST00000264692.8:c.996C>G | ENSP00000264692.5:p.Pro332= | |
| ENST00000403665.6:c.1158C>G | ENSP00000384957.2:p.Pro386= | |
| NM_000128.3:c.1158C>G , LRG_583t1:c.1158C>G | NP_000119.1:p.Pro386= | |
| XM_005262821.2:c.1161C>G | XP_005262878.1:p.Pro387= | |
| XM_005262822.2:c.1161C>G | XP_005262879.1:p.Pro387= | |
| XM_005262823.2:c.891C>G | XP_005262880.1:p.Pro297= | |
| XM_005262824.1:c.1161C>G | XP_005262881.1:p.Pro387= | |
| XM_006714137.1:c.1113C>G | XP_006714200.1:p.Pro371= | |
| XR_938706.1:n.1566C>G | ||
| XR_938707.1:n.1566C>G | ||
| XM_005262821.4:c.1161C>G | XP_005262878.1:p.Pro387= | |
| XM_005262822.4:c.1161C>G | XP_005262879.1:p.Pro387= | |
| XM_005262823.4:c.891C>G | XP_005262880.1:p.Pro297= | |
| XM_006714137.3:c.1113C>G | XP_006714200.1:p.Pro371= | |
| XM_017007884.2:c.*2130C>G | XP_016863373.1:n.*2130C>G | |
| XM_017007885.2:c.*26C>G | XP_016863374.1:n.*26C>G | |
| XR_001741172.2:n.1632C>G | ||
| NM_000128.4:c.1158C>G MANE Select | NP_000119.1:p.Pro386= |