Linked Data
ClinVar Variation Id:
844
ClinVar RCV Id:
RCV000000887
dbSNP Id:
rs80356758
ExAC:
12:124239084 C / T
gnomAD v2:
12-124239084-C-T
gnomAD v3:
12-123754537-C-T
gnomAD v4:
12-123754537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123754537C>T , CM000674.2:g.123754537C>T | GRCh38 |
| NC_000012.11:g.124239084C>T , CM000674.1:g.124239084C>T | GRCh37 |
| NC_000012.10:g.122805037C>T | NCBI36 |
| NG_012743.1:g.47220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2293C>T MANE Select | ENSP00000332247.2:p.Gln765Ter | |
| ENST00000540368.6:n.2324C>T | ||
| ENST00000674794.1:c.2381C>T | ||
| ENST00000675344.1:c.*1314C>T | ENSP00000501953.1:n.*1314C>T | |
| ENST00000330342.7:c.2293C>T | ENSP00000332247.2:p.Gln765Ter | |
| ENST00000534943.5:c.133C>T | ENSP00000443726.1:p.Gln45Ter | |
| ENST00000544833.1:c.139C>T | ENSP00000441143.1:p.Gln47Ter | |
| NM_012463.3:c.2293C>T | NP_036595.2:p.Gln765Ter | |
| XM_005253563.1:c.2173C>T | XP_005253620.1:p.Gln725Ter | |
| XM_006719317.2:c.1780C>T | XP_006719380.1:p.Gln594Ter | |
| XM_006719318.2:c.1471C>T | XP_006719381.1:p.Gln491Ter | |
| XR_429088.1:n.2456C>T | ||
| XM_024448910.1:c.2173C>T | XP_024304678.1:p.Gln725Ter | |
| XM_024448911.1:c.1780C>T | XP_024304679.1:p.Gln594Ter | |
| XM_024448912.1:c.1471C>T | XP_024304680.1:p.Gln491Ter | |
| NM_012463.4:c.2293C>T MANE Select | NP_036595.2:p.Gln765Ter |