Linked Data
ClinVar Variation Id:
161244
ClinVar RCV Id:
RCV000148500
RCV000181421
RCV000284823
RCV000307377
RCV000315057
RCV000364336
RCV000393539
RCV000393542
RCV000463596
RCV000588674
RCV000659507
dbSNP Id:
rs146726731
ExAC:
15:48812976 C / T
gnomAD v2:
15-48812976-C-T
gnomAD v3:
15-48520779-C-T
gnomAD v4:
15-48520779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48520779C>T , CM000677.2:g.48520779C>T | GRCh38 |
| NC_000015.9:g.48812976C>T , CM000677.1:g.48812976C>T | GRCh37 |
| NC_000015.8:g.46600268C>T | NCBI36 |
| NG_008805.2:g.130010G>A , LRG_778:g.130010G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.1027G>A | ENSP00000453958.2:p.Gly343Arg | |
| ENST00000674301.2:c.1027G>A | ENSP00000501333.2:p.Gly343Arg | |
| ENST00000316623.10:c.1027G>A MANE Select | ENSP00000325527.5:p.Gly343Arg | |
| ENST00000316623.9:c.1027G>A | ENSP00000325527.5:p.Gly343Arg | |
| ENST00000537463.6:c.636+16932G>A | ENSP00000440294.2:n.636+16932G>A | |
| NM_000138.4:c.1027G>A , LRG_778t1:c.1027G>A | NP_000129.3:p.Gly343Arg | |
| NM_000138.5:c.1027G>A MANE Select | NP_000129.3:p.Gly343Arg |