Linked Data
dbSNP Id:
rs570719838
ExAC:
11:119077267 C / T
gnomAD v2:
11-119077267-C-T
gnomAD v3:
11-119206557-C-T
gnomAD v4:
11-119206557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206557C>T , CM000673.2:g.119206557C>T | GRCh38 |
| NC_000011.9:g.119077267C>T , CM000673.1:g.119077267C>T | GRCh37 |
| NC_000011.8:g.118582477C>T | NCBI36 |
| NG_016808.1:g.5278C>T , LRG_608:g.5278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.140C>T | ENSP00000515005.1:p.Pro47Leu | |
| ENST00000264033.6:c.140C>T MANE Select | ENSP00000264033.3:p.Pro47Leu | |
| ENST00000637974.1:c.134C>T | ENSP00000490763.1:p.Pro45Leu | |
| ENST00000264033.5:c.140C>T | ENSP00000264033.3:p.Pro47Leu | |
| ENST00000634586.1:c.140C>T | ENSP00000489218.1:p.Pro47Leu | |
| ENST00000634840.1:c.140C>T | ENSP00000489324.1:p.Pro47Leu | |
| NM_005188.3:c.140C>T , LRG_608t1:c.140C>T | NP_005179.2:p.Pro47Leu | |
| XM_011543057.1:c.140C>T | XP_011541359.1:p.Pro47Leu | |
| NM_005188.4:c.140C>T MANE Select | NP_005179.2:p.Pro47Leu |