Linked Data
ClinVar Variation Id:
1898918
ClinVar RCV Id:
RCV002574154
dbSNP Id:
rs1204157806
gnomAD v3:
5-149977916-G-A
gnomAD v4:
5-149977916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977916G>A , CM000667.2:g.149977916G>A | GRCh38 |
| NC_000005.9:g.149357479G>A , CM000667.1:g.149357479G>A | GRCh37 |
| NC_000005.8:g.149337672G>A | NCBI36 |
| NG_007147.2:g.19034G>A , LRG_684:g.19034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.496G>A | ||
| ENST00000286298.5:c.264G>A MANE Select | ENSP00000286298.4:p.Met88Ile | |
| ENST00000286298.4:c.264G>A | ENSP00000286298.4:p.Met88Ile | |
| NM_000112.3:c.264G>A , LRG_684t1:c.264G>A | NP_000103.2:p.Met88Ile | |
| XM_017009191.2:c.264G>A | XP_016864680.1:p.Met88Ile | |
| NM_000112.4:c.264G>A MANE Select | NP_000103.2:p.Met88Ile |