Linked Data
dbSNP Id:
rs1490913789
gnomAD v2:
4-47408586-T-A
gnomAD v3:
4-47406569-T-A
gnomAD v4:
4-47406569-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406569T>A , CM000666.2:g.47406569T>A | GRCh38 |
| NC_000004.11:g.47408586T>A , CM000666.1:g.47408586T>A | GRCh37 |
| NC_000004.10:g.47103343T>A | NCBI36 |
| NG_051831.1:g.380292T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.836-113T>A MANE Select | ENSP00000295454.3:n.836-113T>A | |
| ENST00000295454.7:c.836-113T>A | ENSP00000295454.3:n.836-113T>A | |
| NM_000812.3:c.836-113T>A | NP_000803.2:n.836-113T>A | |
| XM_011513678.1:c.815-113T>A | XP_011511980.1:n.815-113T>A | |
| XM_017007985.1:c.185-113T>A | XP_016863474.1:n.185-113T>A | |
| XM_024453976.1:c.737-113T>A | XP_024309744.1:n.737-113T>A | |
| XM_024453977.1:c.737-113T>A | XP_024309745.1:n.737-113T>A | |
| XM_024453978.1:c.737-113T>A | XP_024309746.1:n.737-113T>A | |
| NM_000812.4:c.836-113T>A MANE Select | NP_000803.2:n.836-113T>A |