Linked Data
dbSNP Id:
rs776973438
ExAC:
19:51363316 C / T
gnomAD v2:
19-51363316-C-T
gnomAD v4:
19-50860060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860060C>T , CM000681.2:g.50860060C>T | GRCh38 |
| NC_000019.9:g.51363316C>T , CM000681.1:g.51363316C>T | GRCh37 |
| NC_000019.8:g.56055128C>T | NCBI36 |
| NG_011653.1:g.10146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.719C>T MANE Select | ENSP00000314151.1:p.Pro240Leu | |
| ENST00000326003.6:c.719C>T | ENSP00000314151.1:p.Pro240Leu | |
| ENST00000360617.7:c.1161C>T | ENSP00000353829.2:n.1161C>T | |
| ENST00000422986.6:c.*375C>T | ENSP00000393628.2:n.*375C>T | |
| ENST00000595392.5:c.*220C>T | ENSP00000468912.1:n.*220C>T | |
| ENST00000595952.5:c.590C>T | ENSP00000471155.1:p.Pro197Leu | |
| ENST00000596333.1:n.897C>T | ||
| ENST00000598145.1:c.721C>T | ||
| ENST00000601349.5:n.1998C>T | ||
| ENST00000601812.1:n.1151C>T | ||
| ENST00000617027.4:c.596C>T | ENSP00000483513.1:p.Pro199Leu | |
| NM_001030047.1:c.*444C>T | NP_001025218.1:n.*444C>T | |
| NM_001030048.1:c.590C>T | NP_001025219.1:p.Pro197Leu | |
| NM_001648.2:c.719C>T MANE Select | NP_001639.1:p.Pro240Leu | |
| XM_011526923.1:c.737C>T | XP_011525225.1:p.Pro246Leu | |
| XR_935817.1:n.1324+806C>T |