Linked Data
ClinVar Variation Id:
2914714
ClinVar RCV Id:
RCV003598748
dbSNP Id:
rs771382634
ExAC:
12:103234278 T / C
gnomAD v2:
12-103234278-T-C
gnomAD v4:
12-102840500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840500T>C , CM000674.2:g.102840500T>C | GRCh38 |
| NC_000012.11:g.103234278T>C , CM000674.1:g.103234278T>C | GRCh37 |
| NC_000012.10:g.101758408T>C | NCBI36 |
| NG_008690.1:g.82103A>G | |
| NG_008690.2:g.122911A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1215A>G MANE Select | ENSP00000448059.1:p.Thr405= | |
| ENST00000307000.7:c.1200A>G | ENSP00000303500.2:p.Thr400= | |
| ENST00000551114.2:n.877A>G | ||
| ENST00000553106.5:c.1215A>G | ENSP00000448059.1:p.Thr405= | |
| ENST00000635477.1:c.319A>G | ||
| ENST00000635528.1:n.730A>G | ||
| NM_000277.1:c.1215A>G | NP_000268.1:p.Thr405= | |
| XM_011538422.1:c.1158A>G | XP_011536724.1:p.Thr386= | |
| NM_000277.2:c.1215A>G | NP_000268.1:p.Thr405= | |
| NM_001354304.1:c.1215A>G | NP_001341233.1:p.Thr405= | |
| NM_000277.3:c.1215A>G MANE Select | NP_000268.1:p.Thr405= | |
| NM_001354304.2:c.1215A>G | NP_001341233.1:p.Thr405= |