Linked Data
dbSNP Id:
rs768246538
ExAC:
6:24291208 G / A
gnomAD v2:
6-24291208-G-A
gnomAD v3:
6-24290980-G-A
gnomAD v4:
6-24290980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290980G>A , CM000668.2:g.24290980G>A | GRCh38 |
| NC_000006.11:g.24291208G>A , CM000668.1:g.24291208G>A | GRCh37 |
| NC_000006.10:g.24399187G>A | NCBI36 |
| NG_012829.1:g.72073C>T | |
| NG_012829.2:g.97313C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.656C>T MANE Select | ENSP00000367715.3:p.Pro219Leu | |
| ENST00000378454.7:c.656C>T | ENSP00000367715.3:p.Pro219Leu | |
| NM_001195610.1:c.656C>T | NP_001182539.1:p.Pro219Leu | |
| NM_016356.4:c.656C>T | NP_057440.2:p.Pro219Leu | |
| NM_016356.5:c.656C>T MANE Select | NP_057440.2:p.Pro219Leu | |
| NM_001195610.2:c.656C>T | NP_001182539.1:p.Pro219Leu |