Linked Data
ClinVar Variation Id:
2828515
ClinVar RCV Id:
RCV003625481
dbSNP Id:
rs200408490
gnomAD v4:
11-2171667-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171667C>A , CM000673.2:g.2171667C>A | GRCh38 |
| NC_000011.9:g.2192897C>A , CM000673.1:g.2192897C>A | GRCh37 |
| NC_000011.8:g.2149473C>A | NCBI36 |
| NG_008128.1:g.5139G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.90+30G>T MANE Select | ENSP00000325951.4:n.90+30G>T | |
| ENST00000324155.8:c.90+30G>T | ENSP00000325831.3:n.90+30G>T | |
| ENST00000333684.9:c.90+30G>T | ENSP00000328814.6:n.90+30G>T | |
| ENST00000352909.7:c.90+30G>T | ENSP00000325951.3:n.90+30G>T | |
| ENST00000381168.7:c.102+18G>T | ENSP00000370560.3:n.102+18G>T | |
| ENST00000381175.5:c.90+30G>T | ENSP00000370567.1:n.90+30G>T | |
| ENST00000381178.5:c.102+18G>T | ENSP00000370571.1:n.102+18G>T | |
| NM_000360.3:c.90+30G>T | NP_000351.2:n.90+30G>T | |
| NM_199292.2:c.102+18G>T | NP_954986.2:n.102+18G>T | |
| NM_199293.2:c.90+30G>T | NP_954987.2:n.90+30G>T | |
| XM_011520335.1:c.102+18G>T | XP_011518637.1:n.102+18G>T | |
| XM_011520335.2:c.102+18G>T | XP_011518637.1:n.102+18G>T | |
| NM_000360.4:c.90+30G>T MANE Select | NP_000351.2:n.90+30G>T | |
| NM_199292.3:c.102+18G>T | NP_954986.2:n.102+18G>T | |
| NM_199293.3:c.90+30G>T | NP_954987.2:n.90+30G>T |