Linked Data
dbSNP Id:
rs17388568
gnomAD v2:
4-123329362-G-A
gnomAD v3:
4-122408207-G-A
gnomAD v4:
4-122408207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122408207G>A , CM000666.2:g.122408207G>A | GRCh38 |
| NC_000004.11:g.123329362G>A , CM000666.1:g.123329362G>A | GRCh37 |
| NC_000004.10:g.123548812G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296513.7:c.848+176G>A MANE Select | ENSP00000296513.2:n.848+176G>A | |
| ENST00000296513.6:c.848+176G>A | ENSP00000296513.2:n.848+176G>A | |
| ENST00000388724.6:c.848+176G>A | ENSP00000373376.2:n.848+176G>A | |
| ENST00000388725.2:c.794+176G>A | ENSP00000373377.2:n.794+176G>A | |
| NM_001159285.1:c.848+176G>A | NP_001152757.1:n.848+176G>A | |
| NM_001159295.1:c.794+176G>A | NP_001152767.1:n.794+176G>A | |
| NM_139243.3:c.848+176G>A | NP_640336.1:n.848+176G>A | |
| XM_005262741.2:c.848+176G>A | XP_005262798.1:n.848+176G>A | |
| XM_005262743.2:c.848+176G>A | XP_005262800.1:n.848+176G>A | |
| XM_005262744.2:c.848+176G>A | XP_005262801.1:n.848+176G>A | |
| XM_005262745.2:c.779+176G>A | XP_005262802.1:n.779+176G>A | |
| XM_011531603.1:c.848+176G>A | XP_011529905.1:n.848+176G>A | |
| XM_005262743.3:c.848+176G>A | XP_005262800.1:n.848+176G>A | |
| XM_005262744.3:c.848+176G>A | XP_005262801.1:n.848+176G>A | |
| XM_005262745.3:c.779+176G>A | XP_005262802.1:n.779+176G>A | |
| XM_011531603.2:c.848+176G>A | XP_011529905.1:n.848+176G>A | |
| XM_024453888.1:c.848+176G>A | XP_024309656.1:n.848+176G>A | |
| XM_024453889.1:c.848+176G>A | XP_024309657.1:n.848+176G>A | |
| XM_024453890.1:c.848+176G>A | XP_024309658.1:n.848+176G>A | |
| NM_139243.4:c.848+176G>A MANE Select | NP_640336.1:n.848+176G>A | |
| NM_001159285.2:c.848+176G>A | NP_001152757.1:n.848+176G>A | |
| NM_001159295.2:c.794+176G>A | NP_001152767.1:n.794+176G>A |