Linked Data
dbSNP Id:
rs927203347
gnomAD v2:
19-51363340-A-C
gnomAD v3:
19-50860084-A-C
gnomAD v4:
19-50860084-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860084A>C , CM000681.2:g.50860084A>C | GRCh38 |
| NC_000019.9:g.51363340A>C , CM000681.1:g.51363340A>C | GRCh37 |
| NC_000019.8:g.56055152A>C | NCBI36 |
| NG_011653.1:g.10170A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.743A>C MANE Select | ENSP00000314151.1:p.His248Pro | |
| ENST00000326003.6:c.743A>C | ENSP00000314151.1:p.His248Pro | |
| ENST00000360617.7:c.1185A>C | ENSP00000353829.2:n.1185A>C | |
| ENST00000422986.6:c.*399A>C | ENSP00000393628.2:n.*399A>C | |
| ENST00000595392.5:c.*244A>C | ENSP00000468912.1:n.*244A>C | |
| ENST00000595952.5:c.614A>C | ENSP00000471155.1:p.His205Pro | |
| ENST00000596333.1:n.921A>C | ||
| ENST00000598145.1:c.745A>C | ||
| ENST00000601349.5:n.2022A>C | ||
| ENST00000601812.1:n.1175A>C | ||
| ENST00000617027.4:c.620A>C | ENSP00000483513.1:p.His207Pro | |
| NM_001030047.1:c.*468A>C | NP_001025218.1:n.*468A>C | |
| NM_001030048.1:c.614A>C | NP_001025219.1:p.His205Pro | |
| NM_001648.2:c.743A>C MANE Select | NP_001639.1:p.His248Pro | |
| XM_011526923.1:c.761A>C | XP_011525225.1:p.His254Pro | |
| XR_935817.1:n.1324+830A>C |