Linked Data
ClinVar Variation Id:
316393
ClinVar RCV Id:
RCV000265294
RCV000300622
RCV000320428
RCV000355433
RCV000360782
RCV000354296
RCV000402469
RCV003765837
dbSNP Id:
rs886051252
gnomAD v2:
15-48905231-G-A
gnomAD v4:
15-48613034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48613034G>A , CM000677.2:g.48613034G>A | GRCh38 |
| NC_000015.9:g.48905231G>A , CM000677.1:g.48905231G>A | GRCh37 |
| NC_000015.8:g.46692523G>A | NCBI36 |
| NG_008805.2:g.37755C>T , LRG_778:g.37755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.223C>T | ENSP00000453958.2:p.Pro75Ser | |
| ENST00000674301.2:c.223C>T | ENSP00000501333.2:p.Pro75Ser | |
| ENST00000316623.10:c.223C>T MANE Select | ENSP00000325527.5:p.Pro75Ser | |
| ENST00000316623.9:c.223C>T | ENSP00000325527.5:p.Pro75Ser | |
| ENST00000537463.6:c.223C>T | ENSP00000440294.2:p.Pro75Ser | |
| NM_000138.4:c.223C>T , LRG_778t1:c.223C>T | NP_000129.3:p.Pro75Ser | |
| NM_000138.5:c.223C>T MANE Select | NP_000129.3:p.Pro75Ser |