Linked Data
ClinVar Variation Id:
42408
ClinVar RCV Id:
RCV000035251
RCV000252112
RCV000267077
RCV000325710
RCV000337285
RCV000322080
RCV000380286
RCV000376729
RCV000755265
RCV001082294
dbSNP Id:
rs363824
ExAC:
15:48725121 T / G
gnomAD v2:
15-48725121-T-G
gnomAD v3:
15-48432924-T-G
gnomAD v4:
15-48432924-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432924T>G , CM000677.2:g.48432924T>G | GRCh38 |
| NC_000015.9:g.48725121T>G , CM000677.1:g.48725121T>G | GRCh37 |
| NC_000015.8:g.46512413T>G | NCBI36 |
| NG_008805.2:g.217865A>C , LRG_778:g.217865A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6681A>C | ENSP00000453958.2:p.Ser2227= | |
| ENST00000674301.2:c.*132A>C | ENSP00000501333.2:n.*132A>C | |
| ENST00000682170.1:n.290A>C | ||
| ENST00000316623.10:c.6681A>C MANE Select | ENSP00000325527.5:p.Ser2227= | |
| ENST00000674301.1:c.1785A>C | ENSP00000501333.1:n.1785A>C | |
| ENST00000316623.9:c.6681A>C | ENSP00000325527.5:p.Ser2227= | |
| ENST00000537463.6:c.*2444A>C | ENSP00000440294.2:n.*2444A>C | |
| ENST00000559133.5:c.1988A>C | ||
| NM_000138.4:c.6681A>C , LRG_778t1:c.6681A>C | NP_000129.3:p.Ser2227= | |
| NM_000138.5:c.6681A>C MANE Select | NP_000129.3:p.Ser2227= |