Linked Data
dbSNP Id:
rs28925904
ExAC:
4:144359490 C / T
gnomAD v2:
4-144359490-C-T
gnomAD v3:
4-143438337-C-T
gnomAD v4:
4-143438337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143438337C>T , CM000666.2:g.143438337C>T | GRCh38 |
| NC_000004.11:g.144359490C>T , CM000666.1:g.144359490C>T | GRCh37 |
| NC_000004.10:g.144578940C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262995.9:c.932C>T | ENSP00000262995.4:p.Pro311Leu | |
| ENST00000262994.9:c.932C>T MANE Select | ENSP00000262994.4:p.Pro311Leu | |
| ENST00000262994.8:c.932C>T | ENSP00000262994.4:p.Pro311Leu | |
| ENST00000262995.8:c.932C>T | ENSP00000262995.4:p.Pro311Leu | |
| ENST00000505913.5:c.623C>T | ENSP00000424554.1:p.Pro208Leu | |
| ENST00000507334.1:n.81C>T | ||
| ENST00000512843.1:c.226+4621C>T | ||
| NM_002039.3:c.932C>T | NP_002030.2:p.Pro311Leu | |
| NM_207123.2:c.932C>T | NP_997006.1:p.Pro311Leu | |
| XM_005262881.3:c.1013C>T | XP_005262938.1:p.Pro338Leu | |
| XM_005262882.3:c.1013C>T | XP_005262939.1:p.Pro338Leu | |
| XM_006714167.2:c.704C>T | XP_006714230.1:p.Pro235Leu | |
| XM_006714168.2:c.704C>T | XP_006714231.1:p.Pro235Leu | |
| XM_006714167.4:c.704C>T | XP_006714230.1:p.Pro235Leu | |
| XM_006714168.4:c.704C>T | XP_006714231.1:p.Pro235Leu | |
| XM_017007966.1:c.974C>T | XP_016863455.1:p.Pro325Leu | |
| XM_017007967.1:c.962C>T | XP_016863456.1:p.Pro321Leu | |
| XM_017007968.1:c.893C>T | XP_016863457.1:p.Pro298Leu | |
| XM_017007969.1:c.704C>T | XP_016863458.1:p.Pro235Leu | |
| XM_017007970.1:c.704C>T | XP_016863459.1:p.Pro235Leu | |
| XM_017007971.1:c.623C>T | XP_016863460.1:p.Pro208Leu | |
| NM_002039.4:c.932C>T MANE Select | NP_002030.2:p.Pro311Leu | |
| NM_207123.3:c.932C>T | NP_997006.1:p.Pro311Leu |