Linked Data
dbSNP Id:
rs963195194
gnomAD v3:
19-50860079-G-C
gnomAD v4:
19-50860079-G-C
MyVariant Identifiers:
chr19:g.51363335G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860079G>C , CM000681.2:g.50860079G>C | GRCh38 |
| NC_000019.9:g.51363335G>C , CM000681.1:g.51363335G>C | GRCh37 |
| NC_000019.8:g.56055147G>C | NCBI36 |
| NG_011653.1:g.10165G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.738G>C MANE Select | ENSP00000314151.1:p.Val246= | |
| ENST00000326003.6:c.738G>C | ENSP00000314151.1:p.Val246= | |
| ENST00000360617.7:c.1180G>C | ENSP00000353829.2:n.1180G>C | |
| ENST00000422986.6:c.*394G>C | ENSP00000393628.2:n.*394G>C | |
| ENST00000595392.5:c.*239G>C | ENSP00000468912.1:n.*239G>C | |
| ENST00000595952.5:c.609G>C | ENSP00000471155.1:p.Val203= | |
| ENST00000596333.1:n.916G>C | ||
| ENST00000598145.1:c.740G>C | ||
| ENST00000601349.5:n.2017G>C | ||
| ENST00000601812.1:n.1170G>C | ||
| ENST00000617027.4:c.615G>C | ENSP00000483513.1:p.Val205= | |
| NM_001030047.1:c.*463G>C | NP_001025218.1:n.*463G>C | |
| NM_001030048.1:c.609G>C | NP_001025219.1:p.Val203= | |
| NM_001648.2:c.738G>C MANE Select | NP_001639.1:p.Val246= | |
| XM_011526923.1:c.756G>C | XP_011525225.1:p.Val252= | |
| XR_935817.1:n.1324+825G>C |