Linked Data
ClinVar Variation Id:
369978
ClinVar RCV Id:
RCV000578084
dbSNP Id:
rs921444831
gnomAD v3:
4-78450199-A-T
gnomAD v4:
4-78450199-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78450199A>T , CM000666.2:g.78450199A>T | GRCh38 |
| NC_000004.11:g.79371353A>T , CM000666.1:g.79371353A>T | GRCh37 |
| NC_000004.10:g.79590377A>T | NCBI36 |
| NG_015812.1:g.397630A>T | |
| NG_015812.2:g.397630A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.6323A>T | ENSP00000508201.1:p.Asp2108Val | |
| ENST00000684159.1:c.6323A>T | ENSP00000506875.1:p.Asp2108Val | |
| ENST00000512123.4:c.6323A>T MANE Select | ENSP00000422834.2:p.Asp2108Val | |
| ENST00000509802.1:n.308A>T | ||
| ENST00000512123.3:c.6323A>T | ENSP00000422834.2:p.Asp2108Val | |
| NM_025074.6:c.6323A>T | NP_079350.5:p.Asp2108Val | |
| XM_006714314.1:c.6317A>T | XP_006714377.1:p.Asp2106Val | |
| XM_006714316.1:c.6323A>T | XP_006714379.1:p.Asp2108Val | |
| XM_011532270.1:c.4022A>T | XP_011530572.1:p.Asp1341Val | |
| XM_011532271.1:c.1211A>T | XP_011530573.1:p.Asp404Val | |
| XM_006714316.3:c.6323A>T | XP_006714379.1:p.Asp2108Val | |
| NM_025074.7:c.6323A>T MANE Select | NP_079350.5:p.Asp2108Val |