Linked Data
dbSNP Id:
rs959903
gnomAD v2:
4-25810096-G-A
gnomAD v3:
4-25808474-G-A
gnomAD v4:
4-25808474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25808474G>A , CM000666.2:g.25808474G>A | GRCh38 |
| NC_000004.11:g.25810096G>A , CM000666.1:g.25810096G>A | GRCh37 |
| NC_000004.10:g.25419194G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399878.8:c.1565-3722C>T MANE Select | ENSP00000382767.3:n.1565-3722C>T | |
| ENST00000264868.9:c.1460-3722C>T | ENSP00000264868.5:n.1460-3722C>T | |
| ENST00000399878.7:c.1565-3722C>T | ENSP00000382767.3:n.1565-3722C>T | |
| ENST00000502949.5:c.1106-3722C>T | ENSP00000425438.1:n.1106-3722C>T | |
| NM_001297592.1:c.1460-3722C>T | NP_001284521.1:n.1460-3722C>T | |
| NM_001297594.1:c.1106-3722C>T | NP_001284523.1:n.1106-3722C>T | |
| NM_015187.4:c.1565-3722C>T | NP_056002.2:n.1565-3722C>T | |
| XM_011513818.1:c.1106-3722C>T | XP_011512120.1:n.1106-3722C>T | |
| XM_011513819.1:c.1106-3722C>T | XP_011512121.1:n.1106-3722C>T | |
| XM_011513820.1:c.1106-3722C>T | XP_011512122.1:n.1106-3722C>T | |
| XM_011513819.2:c.1565-3722C>T | XP_011512121.2:n.1565-3722C>T | |
| XM_024453953.1:c.1106-3722C>T | XP_024309721.1:n.1106-3722C>T | |
| XM_024453954.1:c.1106-3722C>T | XP_024309722.1:n.1106-3722C>T | |
| XM_024453955.1:c.1106-3722C>T | XP_024309723.1:n.1106-3722C>T | |
| XR_001741182.2:n.1507-3722C>T | ||
| NM_015187.5:c.1565-3722C>T MANE Select | NP_056002.2:n.1565-3722C>T | |
| NM_001297592.2:c.1460-3722C>T | NP_001284521.1:n.1460-3722C>T | |
| NM_001297594.2:c.1106-3722C>T | NP_001284523.1:n.1106-3722C>T |