Linked Data
dbSNP Id:
rs772010597
ExAC:
17:48265858 C / T
gnomAD v2:
17-48265858-C-T
gnomAD v4:
17-50188497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188497C>T , CM000679.2:g.50188497C>T | GRCh38 |
| NC_000017.10:g.48265858C>T , CM000679.1:g.48265858C>T | GRCh37 |
| NC_000017.9:g.45620857C>T | NCBI36 |
| NG_007400.1:g.18143G>A , LRG_1:g.18143G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.3207+33G>A MANE Select | ENSP00000225964.6:n.3207+33G>A | |
| ENST00000225964.9:c.3207+33G>A | ENSP00000225964.5:n.3207+33G>A | |
| ENST00000486572.1:n.58G>A | ||
| ENST00000511732.1:n.184G>A | ||
| NM_000088.3:c.3207+33G>A , LRG_1t1:c.3207+33G>A | NP_000079.2:n.3207+33G>A | |
| XM_005257058.3:c.2937+33G>A | XP_005257115.2:n.2937+33G>A | |
| XM_005257059.3:c.2289+33G>A | XP_005257116.2:n.2289+33G>A | |
| XM_011524341.1:c.3009+33G>A | XP_011522643.1:n.3009+33G>A | |
| XM_005257058.4:c.2937+33G>A | XP_005257115.2:n.2937+33G>A | |
| XM_005257059.4:c.2289+33G>A | XP_005257116.2:n.2289+33G>A | |
| NM_000088.4:c.3207+33G>A MANE Select | NP_000079.2:n.3207+33G>A |