Linked Data
ClinVar Variation Id:
5755
ClinVar RCV Id:
RCV000030878
dbSNP Id:
rs28939719
gnomAD v2:
19-919563-T-C
gnomAD v4:
19-919563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.919563T>C , CM000681.2:g.919563T>C | GRCh38 |
| NC_000019.9:g.919563T>C , CM000681.1:g.919563T>C | GRCh37 |
| NC_000019.8:g.870563T>C | NCBI36 |
| NG_008277.1:g.7222T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234371.10:c.443T>C MANE Select | ENSP00000234371.3:p.Leu148Ser | |
| ENST00000234371.9:c.443T>C | ENSP00000234371.3:p.Leu148Ser | |
| ENST00000606939.2:c.443T>C | ENSP00000475639.1:p.Leu148Ser | |
| NM_032551.4:c.443T>C | NP_115940.2:p.Leu148Ser | |
| XM_017027382.1:c.443T>C | XP_016882871.1:p.Leu148Ser | |
| NM_032551.5:c.443T>C MANE Select | NP_115940.2:p.Leu148Ser |