Linked Data
ClinVar Variation Id:
499192
dbSNP Id:
rs1165407566
gnomAD v2:
13-23808744-T-A
gnomAD v3:
13-23234605-T-A
gnomAD v4:
13-23234605-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23234605T>A , CM000675.2:g.23234605T>A | GRCh38 |
| NC_000013.10:g.23808744T>A , CM000675.1:g.23808744T>A | GRCh37 |
| NC_000013.9:g.22706744T>A | NCBI36 |
| NG_008759.1:g.58685T>A , LRG_207:g.58685T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.196-6T>A MANE Select | ENSP00000218867.3:n.196-6T>A | |
| ENST00000218867.3:c.196-6T>A | ENSP00000218867.3:n.196-6T>A | |
| NM_000231.2:c.196-6T>A , LRG_207t1:c.196-6T>A | NP_000222.1:n.196-6T>A | |
| XM_005266505.2:c.196-6T>A | XP_005266562.1:n.196-6T>A | |
| XM_006719861.2:c.250-6T>A | XP_006719924.1:n.250-6T>A | |
| XM_006719861.3:c.250-6T>A | XP_006719924.1:n.250-6T>A | |
| XM_024449397.1:c.196-6T>A | XP_024305165.1:n.196-6T>A | |
| NM_000231.3:c.196-6T>A MANE Select | NP_000222.2:n.196-6T>A | |
| NM_001378244.1:c.250-6T>A | NP_001365173.1:n.250-6T>A | |
| NM_001378245.1:c.196-6T>A | NP_001365174.1:n.196-6T>A | |
| NM_001378246.1:c.196-6T>A | NP_001365175.1:n.196-6T>A |