Linked Data
ClinVar Variation Id:
2885673
ClinVar RCV Id:
RCV003624124
dbSNP Id:
rs1258894451
gnomAD v2:
11-2190994-G-A
gnomAD v4:
11-2169764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169764G>A , CM000673.2:g.2169764G>A | GRCh38 |
| NC_000011.9:g.2190994G>A , CM000673.1:g.2190994G>A | GRCh37 |
| NC_000011.8:g.2147570G>A | NCBI36 |
| NG_008128.1:g.7042C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.198C>T MANE Select | ENSP00000325951.4:p.Asp66= | |
| ENST00000324155.8:c.91-69C>T | ENSP00000325831.3:n.91-69C>T | |
| ENST00000333684.9:c.198C>T | ENSP00000328814.6:p.Asp66= | |
| ENST00000352909.7:c.198C>T | ENSP00000325951.3:p.Asp66= | |
| ENST00000381168.7:c.103-69C>T | ENSP00000370560.3:n.103-69C>T | |
| ENST00000381175.5:c.279C>T | ENSP00000370567.1:p.Asp93= | |
| ENST00000381178.5:c.291C>T | ENSP00000370571.1:p.Asp97= | |
| NM_000360.3:c.198C>T | NP_000351.2:p.Asp66= | |
| NM_199292.2:c.291C>T | NP_954986.2:p.Asp97= | |
| NM_199293.2:c.279C>T | NP_954987.2:p.Asp93= | |
| XM_011520335.1:c.210C>T | XP_011518637.1:p.Asp70= | |
| XM_011520335.2:c.210C>T | XP_011518637.1:p.Asp70= | |
| NM_000360.4:c.198C>T MANE Select | NP_000351.2:p.Asp66= | |
| NM_199292.3:c.291C>T | NP_954986.2:p.Asp97= | |
| NM_199293.3:c.279C>T | NP_954987.2:p.Asp93= |