Linked Data
dbSNP Id:
rs140075542
ExAC:
13:52972050 G / A
gnomAD v2:
13-52972050-G-A
gnomAD v3:
13-52397915-G-A
gnomAD v4:
13-52397915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397915G>A , CM000675.2:g.52397915G>A | GRCh38 |
| NC_000013.10:g.52972050G>A , CM000675.1:g.52972050G>A | GRCh37 |
| NC_000013.9:g.51870051G>A | NCBI36 |
| NG_047168.1:g.13580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.338C>T MANE Select | ENSP00000258613.4:p.Pro113Leu | |
| ENST00000648254.1:c.338C>T | ENSP00000497520.1:p.Pro113Leu | |
| ENST00000258613.4:c.338C>T | ENSP00000258613.4:p.Pro113Leu | |
| ENST00000349258.8:c.338C>T | ENSP00000340650.4:p.Pro113Leu | |
| NM_018676.3:c.338C>T | NP_061146.1:p.Pro113Leu | |
| NM_199263.2:c.338C>T | NP_954872.1:p.Pro113Leu | |
| NM_018676.4:c.338C>T MANE Select | NP_061146.1:p.Pro113Leu | |
| NM_199263.3:c.338C>T | NP_954872.1:p.Pro113Leu |