Linked Data
ClinVar Variation Id:
1235409
ClinVar RCV Id:
RCV001617950
dbSNP Id:
rs11630290
gnomAD v2:
15-63915786-C-T
gnomAD v3:
15-63623587-C-T
gnomAD v4:
15-63623587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63623587C>T , CM000677.2:g.63623587C>T | GRCh38 |
| NC_000015.9:g.63915786C>T , CM000677.1:g.63915786C>T | GRCh37 |
| NC_000015.8:g.61702839C>T | NCBI36 |
| NG_046958.1:g.215363G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443617.7:c.13611+138G>A MANE Select | ENSP00000390158.2:n.13611+138G>A | |
| ENST00000443617.6:c.13611+138G>A | ENSP00000390158.2:n.13611+138G>A | |
| ENST00000558324.1:c.774+138G>A | ||
| NM_003922.3:c.13611+138G>A | NP_003913.3:n.13611+138G>A | |
| XM_011522138.1:c.13689+138G>A | XP_011520440.1:n.13689+138G>A | |
| XM_011522139.1:c.13689+138G>A | XP_011520441.1:n.13689+138G>A | |
| XM_011522140.1:c.13689+138G>A | XP_011520442.1:n.13689+138G>A | |
| XM_011522141.1:c.13686+138G>A | XP_011520443.1:n.13686+138G>A | |
| XM_011522142.1:c.13686+138G>A | XP_011520444.1:n.13686+138G>A | |
| XM_011522143.1:c.13686+138G>A | XP_011520445.1:n.13686+138G>A | |
| XM_011522144.1:c.13668+138G>A | XP_011520446.1:n.13668+138G>A | |
| XM_011522145.1:c.13665+138G>A | XP_011520447.1:n.13665+138G>A | |
| XM_011522146.1:c.13662+138G>A | XP_011520448.1:n.13662+138G>A | |
| XM_011522147.1:c.13638+138G>A | XP_011520449.1:n.13638+138G>A | |
| XM_011522148.1:c.13689+138G>A | XP_011520450.1:n.13689+138G>A | |
| XR_931932.1:n.13668+571G>A | ||
| XM_017022699.2:c.13755+138G>A | XP_016878188.1:n.13755+138G>A | |
| XM_017022700.2:c.13719+138G>A | XP_016878189.1:n.13719+138G>A | |
| XM_017022701.2:c.13704+138G>A | XP_016878190.1:n.13704+138G>A | |
| XM_017022702.2:c.13704+138G>A | XP_016878191.1:n.13704+138G>A | |
| XM_017022703.2:c.13701+138G>A | XP_016878192.1:n.13701+138G>A | |
| XM_017022704.2:c.13683+138G>A | XP_016878193.1:n.13683+138G>A | |
| XM_017022705.2:c.13677+138G>A | XP_016878194.1:n.13677+138G>A | |
| NM_003922.4:c.13611+138G>A MANE Select | NP_003913.3:n.13611+138G>A |