Linked Data
dbSNP Id:
rs146297845
gnomAD v2:
19-51363308-C-T
gnomAD v3:
19-50860052-C-T
gnomAD v4:
19-50860052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860052C>T , CM000681.2:g.50860052C>T | GRCh38 |
| NC_000019.9:g.51363308C>T , CM000681.1:g.51363308C>T | GRCh37 |
| NC_000019.8:g.56055120C>T | NCBI36 |
| NG_011653.1:g.10138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.711C>T MANE Select | ENSP00000314151.1:p.Pro237= | |
| ENST00000326003.6:c.711C>T | ENSP00000314151.1:p.Pro237= | |
| ENST00000360617.7:c.1153C>T | ENSP00000353829.2:n.1153C>T | |
| ENST00000422986.6:c.*367C>T | ENSP00000393628.2:n.*367C>T | |
| ENST00000595392.5:c.*212C>T | ENSP00000468912.1:n.*212C>T | |
| ENST00000595952.5:c.582C>T | ENSP00000471155.1:p.Pro194= | |
| ENST00000596333.1:n.889C>T | ||
| ENST00000598145.1:c.713C>T | ||
| ENST00000601349.5:n.1990C>T | ||
| ENST00000601812.1:n.1143C>T | ||
| ENST00000617027.4:c.588C>T | ENSP00000483513.1:p.Pro196= | |
| NM_001030047.1:c.*436C>T | NP_001025218.1:n.*436C>T | |
| NM_001030048.1:c.582C>T | NP_001025219.1:p.Pro194= | |
| NM_001648.2:c.711C>T MANE Select | NP_001639.1:p.Pro237= | |
| XM_011526923.1:c.729C>T | XP_011525225.1:p.Pro243= | |
| XR_935817.1:n.1324+798C>T |