Linked Data
ClinVar Variation Id:
2915960
ClinVar RCV Id:
RCV003603992
dbSNP Id:
rs1479265777
gnomAD v3:
19-12896332-T-C
gnomAD v4:
19-12896332-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896332T>C , CM000681.2:g.12896332T>C | GRCh38 |
| NC_000019.9:g.13007146T>C , CM000681.1:g.13007146T>C | GRCh37 |
| NC_000019.8:g.12868146T>C | NCBI36 |
| NG_009292.1:g.10173T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.763T>C MANE Select | ENSP00000222214.4:p.Ser255Pro | |
| ENST00000222214.9:c.763T>C | ENSP00000222214.4:p.Ser255Pro | |
| ENST00000421816.6:n.741T>C | ||
| ENST00000585420.5:n.1093T>C | ||
| ENST00000590530.5:c.*203T>C | ENSP00000468452.1:n.*203T>C | |
| ENST00000591043.1:n.799T>C | ||
| ENST00000591470.5:c.763T>C | ENSP00000466845.1:p.Ser255Pro | |
| NM_000159.3:c.763T>C | NP_000150.1:p.Ser255Pro | |
| NM_013976.3:c.763T>C | NP_039663.1:p.Ser255Pro | |
| NR_102316.1:n.926T>C | ||
| NR_102317.1:n.1144T>C | ||
| XM_006722721.2:c.763T>C | XP_006722784.1:p.Ser255Pro | |
| XM_011527899.1:c.763T>C | XP_011526201.1:p.Ser255Pro | |
| XM_011527900.1:c.763T>C | XP_011526202.1:p.Ser255Pro | |
| XM_011527899.2:c.763T>C | XP_011526201.1:p.Ser255Pro | |
| XM_011527900.2:c.763T>C | XP_011526202.1:p.Ser255Pro | |
| XM_017026580.1:c.763T>C | XP_016882069.1:p.Ser255Pro | |
| NM_000159.4:c.763T>C MANE Select | NP_000150.1:p.Ser255Pro | |
| NM_013976.4:c.763T>C | NP_039663.1:p.Ser255Pro | |
| NM_013976.5:c.763T>C | NP_039663.1:p.Ser255Pro |