Linked Data
ClinVar Variation Id:
393114
dbSNP Id:
rs376620571
ExAC:
12:102158576 C / T
gnomAD v2:
12-102158576-C-T
gnomAD v3:
12-101764798-C-T
gnomAD v4:
12-101764798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764798C>T , CM000674.2:g.101764798C>T | GRCh38 |
| NC_000012.11:g.102158576C>T , CM000674.1:g.102158576C>T | GRCh37 |
| NC_000012.10:g.100682707C>T | NCBI36 |
| NG_021243.1:g.71070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2119G>A MANE Select | ENSP00000299314.7:p.Ala707Thr | |
| ENST00000299314.11:c.2119G>A | ENSP00000299314.7:p.Ala707Thr | |
| NM_024312.4:c.2119G>A | NP_077288.2:p.Ala707Thr | |
| XM_006719593.2:c.2119G>A | XP_006719656.1:p.Ala707Thr | |
| XM_011538731.1:c.2038G>A | XP_011537033.1:p.Ala680Thr | |
| XM_006719593.3:c.2119G>A | XP_006719656.1:p.Ala707Thr | |
| XM_011538731.2:c.2038G>A | XP_011537033.1:p.Ala680Thr | |
| XM_017019961.1:c.1903G>A | XP_016875450.1:p.Ala635Thr | |
| XM_017019962.2:c.892G>A | XP_016875451.1:p.Ala298Thr | |
| NM_024312.5:c.2119G>A MANE Select | NP_077288.2:p.Ala707Thr |