Linked Data
dbSNP Id:
rs188498534
gnomAD v2:
5-156668376-A-G
gnomAD v3:
5-157241366-A-G
gnomAD v4:
5-157241366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241366A>G , CM000667.2:g.157241366A>G | GRCh38 |
| NC_000005.9:g.156668376A>G , CM000667.1:g.156668376A>G | GRCh37 |
| NC_000005.8:g.156600954A>G | NCBI36 |
| NG_016276.1:g.65470A>G , LRG_189:g.65470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.852-280A>G | ENSP00000513001.1:n.852-280A>G | |
| ENST00000422843.8:c.986-280A>G MANE Select | ENSP00000398655.4:n.986-280A>G | |
| ENST00000422843.7:c.986-280A>G | ENSP00000398655.3:n.986-280A>G | |
| ENST00000519402.5:n.2291A>G | ||
| ENST00000520173.1:n.104-280A>G | ||
| NM_005546.3:c.986-280A>G , LRG_189t1:c.986-280A>G | NP_005537.3:n.986-280A>G | |
| XM_017009443.1:c.611-280A>G | XP_016864932.1:n.611-280A>G | |
| NM_005546.4:c.986-280A>G MANE Select | NP_005537.3:n.986-280A>G |