Linked Data
ClinVar Variation Id:
529407
ClinVar RCV Id:
RCV000634821
dbSNP Id:
rs373024720
ExAC:
2:73799951 T / C
gnomAD v2:
2-73799951-T-C
gnomAD v3:
2-73572824-T-C
gnomAD v4:
2-73572824-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572824T>C , CM000664.2:g.73572824T>C | GRCh38 |
| NC_000002.11:g.73799951T>C , CM000664.1:g.73799951T>C | GRCh37 |
| NC_000002.10:g.73653459T>C | NCBI36 |
| NG_011690.1:g.192072T>C , LRG_741:g.192072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10566T>C | ENSP00000507671.1:p.Ser3522= | |
| ENST00000682801.1:c.10566T>C | ENSP00000507862.1:p.Ser3522= | |
| ENST00000682859.1:c.10566T>C | ENSP00000508222.1:p.Ser3522= | |
| ENST00000683791.1:c.3652T>C | ||
| ENST00000684460.1:c.7847T>C | ||
| ENST00000684548.1:c.10566T>C | ENSP00000507421.1:p.Ser3522= | |
| ENST00000684590.1:c.5013T>C | ENSP00000507376.1:p.Ser1671= | |
| ENST00000684656.1:c.7892T>C | ||
| ENST00000613296.6:c.10947T>C MANE Select | ENSP00000482968.1:p.Ser3649= | |
| ENST00000651057.1:c.1101T>C | ENSP00000498504.1:p.Ser367= | |
| ENST00000651434.1:c.2303T>C | ||
| ENST00000651750.1:c.335T>C | ||
| ENST00000652487.1:c.2044T>C | ||
| ENST00000423048.5:c.4438T>C | ENSP00000399833.1:n.4438T>C | |
| ENST00000484298.5:c.10821T>C | ENSP00000478155.1:p.Ser3607= | |
| ENST00000613296.4:c.10947T>C | ENSP00000482968.1:p.Ser3649= | |
| ENST00000614410.4:c.10947T>C | ENSP00000479094.1:p.Ser3649= | |
| ENST00000620466.4:n.4750T>C | ||
| NM_015120.4:c.10950T>C , LRG_741t1:c.10950T>C | NP_055935.4:p.Ser3650= | |
| NM_001378454.1:c.10947T>C MANE Select | NP_001365383.1:p.Ser3649= |