Linked Data
dbSNP Id:
rs1199136525
gnomAD v2:
12-103306496-T-C
gnomAD v3:
12-102912718-T-C
gnomAD v4:
12-102912718-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912718T>C , CM000674.2:g.102912718T>C | GRCh38 |
| NC_000012.11:g.103306496T>C , CM000674.1:g.103306496T>C | GRCh37 |
| NC_000012.10:g.101830626T>C | NCBI36 |
| NG_008690.1:g.9885A>G | |
| NG_008690.2:g.50693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.168+73A>G MANE Select | ENSP00000448059.1:n.168+73A>G | |
| ENST00000307000.7:c.153+73A>G | ENSP00000303500.2:n.153+73A>G | |
| ENST00000546844.1:c.168+73A>G | ENSP00000446658.1:n.168+73A>G | |
| ENST00000548677.2:n.255+73A>G | ||
| ENST00000548928.1:n.90+73A>G | ||
| ENST00000549111.5:n.264+73A>G | ||
| ENST00000550978.6:c.152+73A>G | ||
| ENST00000551337.5:c.168+73A>G | ENSP00000447620.1:n.168+73A>G | |
| ENST00000551988.5:n.257+73A>G | ||
| ENST00000553106.5:c.168+73A>G | ENSP00000448059.1:n.168+73A>G | |
| ENST00000635500.1:n.136+73A>G | ||
| NM_000277.1:c.168+73A>G | NP_000268.1:n.168+73A>G | |
| XM_011538422.1:c.168+73A>G | XP_011536724.1:n.168+73A>G | |
| NM_000277.2:c.168+73A>G | NP_000268.1:n.168+73A>G | |
| NM_001354304.1:c.168+73A>G | NP_001341233.1:n.168+73A>G | |
| XM_017019370.2:c.168+73A>G | XP_016874859.1:n.168+73A>G | |
| NM_000277.3:c.168+73A>G MANE Select | NP_000268.1:n.168+73A>G | |
| NM_001354304.2:c.168+73A>G | NP_001341233.1:n.168+73A>G |