Linked Data
ClinVar Variation Id:
102911
dbSNP Id:
rs61747292
ExAC:
12:103240679 G / A
gnomAD v2:
12-103240679-G-A
gnomAD v3:
12-102846901-G-A
gnomAD v4:
12-102846901-G-A
PubMed:
PMID:11139255
PMID:12210276
PMID:12644360
PMID:16402341
PMID:18590700
PMID:18937293
PMID:23856132
ERepo:
CA229873/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846901G>A , CM000674.2:g.102846901G>A | GRCh38 |
| NC_000012.11:g.103240679G>A , CM000674.1:g.103240679G>A | GRCh37 |
| NC_000012.10:g.101764809G>A | NCBI36 |
| NG_008690.1:g.75702C>T | |
| NG_008690.2:g.116510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.963C>T MANE Select | ENSP00000448059.1:p.Leu321= | |
| ENST00000307000.7:c.948C>T | ENSP00000303500.2:p.Leu316= | |
| ENST00000549247.6:n.722C>T | ||
| ENST00000551114.2:n.625C>T | ||
| ENST00000553106.5:c.963C>T | ENSP00000448059.1:p.Leu321= | |
| ENST00000635477.1:c.74-2470C>T | ||
| ENST00000635528.1:n.478C>T | ||
| NM_000277.1:c.963C>T | NP_000268.1:p.Leu321= | |
| XM_011538422.1:c.913-2470C>T | XP_011536724.1:n.913-2470C>T | |
| NM_000277.2:c.963C>T | NP_000268.1:p.Leu321= | |
| NM_001354304.1:c.963C>T | NP_001341233.1:p.Leu321= | |
| NM_000277.3:c.963C>T MANE Select | NP_000268.1:p.Leu321= | |
| NM_001354304.2:c.963C>T | NP_001341233.1:p.Leu321= |