Linked Data
ClinVar Variation Id:
198759
dbSNP Id:
rs202231572
ExAC:
11:10516441 C / A
gnomAD v2:
11-10516441-C-A
gnomAD v3:
11-10494894-C-A
gnomAD v4:
11-10494894-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10494894C>A , CM000673.2:g.10494894C>A | GRCh38 |
| NC_000011.9:g.10516441C>A , CM000673.1:g.10516441C>A | GRCh37 |
| NC_000011.8:g.10473017C>A | NCBI36 |
| NG_012041.1:g.49218C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.1135-5C>A MANE Select | ENSP00000379801.2:n.1135-5C>A | |
| ENST00000396553.6:c.1135-5C>A | ENSP00000379801.2:n.1135-5C>A | |
| ENST00000396554.7:c.1162-5C>A | ENSP00000379802.3:n.1162-5C>A | |
| ENST00000444303.6:c.658-5C>A | ENSP00000396000.2:n.658-5C>A | |
| ENST00000528723.5:c.1156-5C>A | ENSP00000436987.1:n.1156-5C>A | |
| ENST00000529507.5:c.1135-5C>A | ENSP00000431648.1:n.1135-5C>A | |
| ENST00000529834.5:c.1135-5C>A | ENSP00000435382.1:n.1135-5C>A | |
| ENST00000533116.1:c.337-5C>A | ENSP00000433351.1:n.337-5C>A | |
| ENST00000534047.5:c.*437-5C>A | ENSP00000433937.1:n.*437-5C>A | |
| NM_000480.2:c.1162-5C>A | NP_000471.1:n.1162-5C>A | |
| NM_001025389.1:c.1135-5C>A | NP_001020560.1:n.1135-5C>A | |
| NM_001025390.1:c.1156-5C>A | NP_001020561.1:n.1156-5C>A | |
| NM_001172430.1:c.1135-5C>A | NP_001165901.1:n.1135-5C>A | |
| NM_001172431.1:c.658-5C>A | NP_001165902.1:n.658-5C>A | |
| NM_000480.3:c.1162-5C>A | NP_000471.1:n.1162-5C>A | |
| NM_001025389.2:c.1135-5C>A MANE Select | NP_001020560.1:n.1135-5C>A | |
| NM_001025390.2:c.1156-5C>A | NP_001020561.1:n.1156-5C>A | |
| NM_001172431.2:c.658-5C>A | NP_001165902.1:n.658-5C>A |