Linked Data
dbSNP Id:
rs1386316590
gnomAD v2:
17-48271866-G-A
gnomAD v3:
17-50194505-G-A
gnomAD v4:
17-50194505-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194505G>A , CM000679.2:g.50194505G>A | GRCh38 |
| NC_000017.10:g.48271866G>A , CM000679.1:g.48271866G>A | GRCh37 |
| NC_000017.9:g.45626865G>A | NCBI36 |
| NG_007400.1:g.12135C>T , LRG_1:g.12135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1516-58C>T MANE Select | ENSP00000225964.6:n.1516-58C>T | |
| ENST00000225964.9:c.1516-58C>T | ENSP00000225964.5:n.1516-58C>T | |
| ENST00000471344.1:n.460-58C>T | ||
| NM_000088.3:c.1516-58C>T , LRG_1t1:c.1516-58C>T | NP_000079.2:n.1516-58C>T | |
| XM_005257058.3:c.1516-58C>T | XP_005257115.2:n.1516-58C>T | |
| XM_005257059.3:c.957+1809C>T | XP_005257116.2:n.957+1809C>T | |
| XM_011524341.1:c.1318-58C>T | XP_011522643.1:n.1318-58C>T | |
| XM_005257058.4:c.1516-58C>T | XP_005257115.2:n.1516-58C>T | |
| XM_005257059.4:c.957+1809C>T | XP_005257116.2:n.957+1809C>T | |
| NM_000088.4:c.1516-58C>T MANE Select | NP_000079.2:n.1516-58C>T |