Linked Data
dbSNP Id:
rs1345248029
gnomAD v2:
6-32411172-C-T
gnomAD v3:
6-32443395-C-T
gnomAD v4:
6-32443395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443395C>T , CM000668.2:g.32443395C>T | GRCh38 |
| NC_000006.11:g.32411172C>T , CM000668.1:g.32411172C>T | GRCh37 |
| NC_000006.10:g.32519150C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.539C>T MANE Select | ENSP00000378786.2:p.Pro180Leu | |
| ENST00000374982.5:c.464C>T | ENSP00000364121.5:p.Pro155Leu | |
| ENST00000395388.6:c.539C>T | ENSP00000378786.2:p.Pro180Leu | |
| NM_019111.4:c.539C>T | NP_061984.2:p.Pro180Leu | |
| NM_019111.5:c.539C>T MANE Select | NP_061984.2:p.Pro180Leu |