Linked Data
dbSNP Id:
rs764456832
ExAC:
17:48274440 G / T
gnomAD v2:
17-48274440-G-T
gnomAD v4:
17-50197079-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197079G>T , CM000679.2:g.50197079G>T | GRCh38 |
| NC_000017.10:g.48274440G>T , CM000679.1:g.48274440G>T | GRCh37 |
| NC_000017.9:g.45629439G>T | NCBI36 |
| NG_007400.1:g.9561C>A , LRG_1:g.9561C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.751-16C>A MANE Select | ENSP00000225964.6:n.751-16C>A | |
| ENST00000225964.9:c.751-16C>A | ENSP00000225964.5:n.751-16C>A | |
| ENST00000495677.1:n.478-16C>A | ||
| NM_000088.3:c.751-16C>A , LRG_1t1:c.751-16C>A | NP_000079.2:n.751-16C>A | |
| XM_005257058.3:c.751-16C>A | XP_005257115.2:n.751-16C>A | |
| XM_005257059.3:c.751-16C>A | XP_005257116.2:n.751-16C>A | |
| XM_011524341.1:c.751-16C>A | XP_011522643.1:n.751-16C>A | |
| XM_005257058.4:c.751-16C>A | XP_005257115.2:n.751-16C>A | |
| XM_005257059.4:c.751-16C>A | XP_005257116.2:n.751-16C>A | |
| NM_000088.4:c.751-16C>A MANE Select | NP_000079.2:n.751-16C>A |