Linked Data
ClinVar Variation Id:
966964
ClinVar RCV Id:
RCV001241766
dbSNP Id:
rs138583961
ExAC:
1:145522587 T / C
gnomAD v2:
1-145522587-T-C
gnomAD v3:
1-145912493-A-G
gnomAD v4:
1-145912493-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912493A>G , CM000663.2:g.145912493A>G | GRCh38 |
| NC_000001.10:g.145522587T>C , CM000663.1:g.145522587T>C | GRCh37 |
| NC_000001.9:g.144233944T>C | NCBI36 |
| NG_033000.3:g.11432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.448T>C MANE Select | ENSP00000358312.3:p.Ser150Pro | |
| ENST00000369306.7:c.448T>C | ENSP00000358312.3:p.Ser150Pro | |
| ENST00000537888.1:c.406T>C | ENSP00000437510.1:p.Ser136Pro | |
| NM_001184795.1:c.406T>C | NP_001171724.1:p.Ser136Pro | |
| NM_003846.2:c.448T>C | NP_003837.1:p.Ser150Pro | |
| NR_073491.1:n.680T>C | ||
| NR_073492.1:n.674T>C | ||
| NR_073493.2:n.896T>C | ||
| NM_003846.3:c.448T>C MANE Select | NP_003837.1:p.Ser150Pro | |
| NR_073491.2:n.473T>C | ||
| NR_073492.2:n.467T>C |