Linked Data
ClinVar Variation Id:
1461027
ClinVar RCV Id:
RCV001983224
dbSNP Id:
rs376145600
ExAC:
10:74183028 C / T
gnomAD v2:
10-74183028-C-T
gnomAD v3:
10-72423270-C-T
gnomAD v4:
10-72423270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72423270C>T , CM000672.2:g.72423270C>T | GRCh38 |
| NC_000010.10:g.74183028C>T , CM000672.1:g.74183028C>T | GRCh37 |
| NC_000010.9:g.73853034C>T | NCBI36 |
| NG_033179.1:g.207922G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.1035G>A MANE Select | ENSP00000354415.5:p.Met345Ile | |
| ENST00000642044.1:c.1053G>A | ENSP00000493232.1:p.Met351Ile | |
| ENST00000361114.9:c.1035G>A | ENSP00000354415.5:p.Met345Ile | |
| ENST00000398761.8:c.1041G>A | ENSP00000381745.5:p.Met347Ile | |
| ENST00000398763.8:c.441G>A | ENSP00000381747.4:p.Met147Ile | |
| ENST00000418483.6:c.441G>A | ENSP00000402470.2:p.Met147Ile | |
| ENST00000476605.7:c.562G>A | ||
| ENST00000489666.2:c.441G>A | ENSP00000474809.1:p.Met147Ile | |
| ENST00000635239.1:c.1047G>A | ENSP00000489563.1:p.Met349Ile | |
| NM_001195518.1:c.1035G>A | NP_001182447.1:p.Met345Ile | |
| NM_001195519.1:c.441G>A | NP_001182448.1:p.Met147Ile | |
| NM_006077.3:c.1041G>A | NP_006068.2:p.Met347Ile | |
| XM_005269383.1:c.1053G>A | XP_005269440.1:p.Met351Ile | |
| XM_005269384.1:c.1047G>A | XP_005269441.1:p.Met349Ile | |
| XM_005269386.1:c.351G>A | XP_005269443.1:p.Met117Ile | |
| XM_011539119.1:c.1203G>A | XP_011537421.1:p.Met401Ile | |
| XR_945585.1:n.1290G>A | ||
| XR_945586.1:n.1122G>A | ||
| NM_001363513.1:c.1053G>A | NP_001350442.1:p.Met351Ile | |
| XM_005269386.2:c.351G>A | XP_005269443.1:p.Met117Ile | |
| XR_001746993.2:n.1291G>A | ||
| XR_001746994.2:n.1129G>A | ||
| XR_945586.2:n.1123G>A | ||
| NM_001195518.2:c.1035G>A MANE Select | NP_001182447.1:p.Met345Ile | |
| NM_001195519.2:c.441G>A | NP_001182448.1:p.Met147Ile | |
| NM_001363513.2:c.1053G>A | NP_001350442.1:p.Met351Ile | |
| NM_006077.4:c.1041G>A | NP_006068.2:p.Met347Ile |