Linked Data
dbSNP Id:
rs1452098029
gnomAD v2:
12-103237369-T-C
gnomAD v3:
12-102843591-T-C
gnomAD v4:
12-102843591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843591T>C , CM000674.2:g.102843591T>C | GRCh38 |
| NC_000012.11:g.103237369T>C , CM000674.1:g.103237369T>C | GRCh37 |
| NC_000012.10:g.101761499T>C | NCBI36 |
| NG_008690.1:g.79012A>G | |
| NG_008690.2:g.119820A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1199+55A>G MANE Select | ENSP00000448059.1:n.1199+55A>G | |
| ENST00000307000.7:c.1184+55A>G | ENSP00000303500.2:n.1184+55A>G | |
| ENST00000549247.6:n.958+55A>G | ||
| ENST00000551114.2:n.861+55A>G | ||
| ENST00000553106.5:c.1199+55A>G | ENSP00000448059.1:n.1199+55A>G | |
| ENST00000635477.1:c.303+55A>G | ||
| ENST00000635528.1:n.714+55A>G | ||
| NM_000277.1:c.1199+55A>G | NP_000268.1:n.1199+55A>G | |
| XM_011538422.1:c.1142+55A>G | XP_011536724.1:n.1142+55A>G | |
| NM_000277.2:c.1199+55A>G | NP_000268.1:n.1199+55A>G | |
| NM_001354304.1:c.1199+55A>G | NP_001341233.1:n.1199+55A>G | |
| NM_000277.3:c.1199+55A>G MANE Select | NP_000268.1:n.1199+55A>G | |
| NM_001354304.2:c.1199+55A>G | NP_001341233.1:n.1199+55A>G |