Linked Data
dbSNP Id:
rs971107205
gnomAD v2:
12-110034011-A-G
gnomAD v3:
12-109596206-A-G
gnomAD v4:
12-109596206-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596206A>G , CM000674.2:g.109596206A>G | GRCh38 |
| NC_000012.11:g.110034011A>G , CM000674.1:g.110034011A>G | GRCh37 |
| NC_000012.10:g.108518394A>G | NCBI36 |
| NG_007702.1:g.27512A>G , LRG_156:g.27512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.197-220A>G | ENSP00000439134.1:n.197-220A>G | |
| ENST00000546277.6:c.1040-220A>G | ENSP00000438153.2:n.1040-220A>G | |
| ENST00000636529.2:n.679-220A>G | ||
| ENST00000697195.1:c.*804-220A>G | ENSP00000513181.1:n.*804-220A>G | |
| ENST00000697196.1:c.*213-220A>G | ENSP00000513182.1:n.*213-220A>G | |
| ENST00000697197.1:n.3069-220A>G | ||
| ENST00000697198.1:n.1424-220A>G | ||
| ENST00000228510.8:c.1040-220A>G MANE Select | ENSP00000228510.3:n.1040-220A>G | |
| ENST00000636529.1:c.665-220A>G | ||
| ENST00000636996.1:c.888-220A>G | ||
| ENST00000228510.7:c.1040-220A>G | ENSP00000228510.3:n.1040-220A>G | |
| ENST00000392727.7:c.884-220A>G | ENSP00000376487.3:n.884-220A>G | |
| ENST00000447878.6:c.*487-220A>G | ENSP00000415555.2:n.*487-220A>G | |
| ENST00000537237.5:c.*713-220A>G | ENSP00000445382.1:n.*713-220A>G | |
| ENST00000539575.4:c.1040-220A>G | ENSP00000443551.2:n.1040-220A>G | |
| ENST00000539696.5:c.197-220A>G | ENSP00000439134.1:n.197-220A>G | |
| ENST00000540353.1:n.3273-220A>G | ||
| ENST00000625889.2:c.884-220A>G | ENSP00000486846.1:n.884-220A>G | |
| ENST00000629016.2:c.*487-220A>G | ENSP00000486804.1:n.*487-220A>G | |
| NM_000431.3:c.1040-220A>G | NP_000422.1:n.1040-220A>G | |
| NM_001114185.2:c.1040-220A>G | NP_001107657.1:n.1040-220A>G | |
| NM_001301182.1:c.884-220A>G | NP_001288111.1:n.884-220A>G | |
| XM_011538372.1:c.1040-220A>G | XP_011536674.1:n.1040-220A>G | |
| XM_017019313.2:c.884-220A>G | XP_016874802.1:n.884-220A>G | |
| XM_017019314.1:c.1040-220A>G | XP_016874803.1:n.1040-220A>G | |
| NM_000431.4:c.1040-220A>G MANE Select | NP_000422.1:n.1040-220A>G | |
| NM_001114185.3:c.1040-220A>G | NP_001107657.1:n.1040-220A>G | |
| NM_001301182.2:c.884-220A>G | NP_001288111.1:n.884-220A>G |