Linked Data
ClinVar Variation Id:
388282
dbSNP Id:
rs183435240
ExAC:
12:102158354 C / T
gnomAD v2:
12-102158354-C-T
gnomAD v3:
12-101764576-C-T
gnomAD v4:
12-101764576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764576C>T , CM000674.2:g.101764576C>T | GRCh38 |
| NC_000012.11:g.102158354C>T , CM000674.1:g.102158354C>T | GRCh37 |
| NC_000012.10:g.100682485C>T | NCBI36 |
| NG_021243.1:g.71292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2341G>A MANE Select | ENSP00000299314.7:p.Val781Met | |
| ENST00000299314.11:c.2341G>A | ENSP00000299314.7:p.Val781Met | |
| NM_024312.4:c.2341G>A | NP_077288.2:p.Val781Met | |
| XM_006719593.2:c.2341G>A | XP_006719656.1:p.Val781Met | |
| XM_011538731.1:c.2260G>A | XP_011537033.1:p.Val754Met | |
| XM_006719593.3:c.2341G>A | XP_006719656.1:p.Val781Met | |
| XM_011538731.2:c.2260G>A | XP_011537033.1:p.Val754Met | |
| XM_017019961.1:c.2125G>A | XP_016875450.1:p.Val709Met | |
| XM_017019962.2:c.1114G>A | XP_016875451.1:p.Val372Met | |
| NM_024312.5:c.2341G>A MANE Select | NP_077288.2:p.Val781Met |