Linked Data
ClinVar Variation Id:
391989
dbSNP Id:
rs149096794
ExAC:
2:73679736 T / C
gnomAD v2:
2-73679736-T-C
gnomAD v3:
2-73452609-T-C
gnomAD v4:
2-73452609-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452609T>C , CM000664.2:g.73452609T>C | GRCh38 |
| NC_000002.11:g.73679736T>C , CM000664.1:g.73679736T>C | GRCh37 |
| NC_000002.10:g.73533244T>C | NCBI36 |
| NG_011690.1:g.71857T>C , LRG_741:g.71857T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5701T>C | ENSP00000507671.1:p.Ser1901Pro | |
| ENST00000682801.1:c.5701T>C | ENSP00000507862.1:p.Ser1901Pro | |
| ENST00000682859.1:c.5701T>C | ENSP00000508222.1:p.Ser1901Pro | |
| ENST00000683791.1:c.685+20318T>C | ||
| ENST00000684197.1:n.1051T>C | ||
| ENST00000684460.1:c.3153T>C | ||
| ENST00000684548.1:c.5701T>C | ENSP00000507421.1:p.Ser1901Pro | |
| ENST00000684590.1:c.199T>C | ENSP00000507376.1:p.Ser67Pro | |
| ENST00000684656.1:c.3153T>C | ||
| ENST00000613296.6:c.6082T>C MANE Select | ENSP00000482968.1:p.Ser2028Pro | |
| ENST00000423048.5:c.913T>C | ENSP00000399833.1:p.Ser305Pro | |
| ENST00000484298.5:c.5956T>C | ENSP00000478155.1:p.Ser1986Pro | |
| ENST00000613296.4:c.6082T>C | ENSP00000482968.1:p.Ser2028Pro | |
| ENST00000614410.4:c.6082T>C | ENSP00000479094.1:p.Ser2028Pro | |
| NM_015120.4:c.6085T>C , LRG_741t1:c.6085T>C | NP_055935.4:p.Ser2029Pro | |
| NM_001378454.1:c.6082T>C MANE Select | NP_001365383.1:p.Ser2028Pro |