Linked Data
ClinVar Variation Id:
255602
dbSNP Id:
rs17078558
ExAC:
13:23853663 T / A
gnomAD v2:
13-23853663-T-A
gnomAD v3:
13-23279524-T-A
gnomAD v4:
13-23279524-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23279524T>A , CM000675.2:g.23279524T>A | GRCh38 |
| NC_000013.10:g.23853663T>A , CM000675.1:g.23853663T>A | GRCh37 |
| NC_000013.9:g.22751663T>A | NCBI36 |
| NG_008759.1:g.103604T>A , LRG_207:g.103604T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.505+46T>A MANE Select | ENSP00000218867.3:n.505+46T>A | |
| ENST00000218867.3:c.505+46T>A | ENSP00000218867.3:n.505+46T>A | |
| NM_000231.2:c.505+46T>A , LRG_207t1:c.505+46T>A | NP_000222.1:n.505+46T>A | |
| XM_005266505.2:c.505+46T>A | XP_005266562.1:n.505+46T>A | |
| XM_006719861.2:c.559+46T>A | XP_006719924.1:n.559+46T>A | |
| XM_006719861.3:c.559+46T>A | XP_006719924.1:n.559+46T>A | |
| XM_024449397.1:c.505+46T>A | XP_024305165.1:n.505+46T>A | |
| NM_000231.3:c.505+46T>A MANE Select | NP_000222.2:n.505+46T>A | |
| NM_001378244.1:c.559+46T>A | NP_001365173.1:n.559+46T>A | |
| NM_001378245.1:c.505+46T>A | NP_001365174.1:n.505+46T>A | |
| NM_001378246.1:c.505+46T>A | NP_001365175.1:n.505+46T>A |