Linked Data
gnomAD v4:
5-157241474-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241474A>C , CM000667.2:g.157241474A>C | GRCh38 |
| NC_000005.9:g.156668484A>C , CM000667.1:g.156668484A>C | GRCh37 |
| NC_000005.8:g.156601062A>C | NCBI36 |
| NG_016276.1:g.65578A>C , LRG_189:g.65578A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.852-172A>C | ENSP00000513001.1:n.852-172A>C | |
| ENST00000422843.8:c.986-172A>C MANE Select | ENSP00000398655.4:n.986-172A>C | |
| ENST00000422843.7:c.986-172A>C | ENSP00000398655.3:n.986-172A>C | |
| ENST00000519402.5:n.2399A>C | ||
| ENST00000520173.1:n.104-172A>C | ||
| NM_005546.3:c.986-172A>C , LRG_189t1:c.986-172A>C | NP_005537.3:n.986-172A>C | |
| XM_017009443.1:c.611-172A>C | XP_016864932.1:n.611-172A>C | |
| NM_005546.4:c.986-172A>C MANE Select | NP_005537.3:n.986-172A>C |