Linked Data
dbSNP Id:
rs1489987694
gnomAD v2:
16-2140463-C-G
gnomAD v3:
16-2090462-C-G
gnomAD v4:
16-2090462-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090462C>G , CM000678.2:g.2090462C>G | GRCh38 |
| NC_000016.9:g.2140463C>G , CM000678.1:g.2140463C>G | GRCh37 |
| NC_000016.8:g.2080464C>G | NCBI36 |
| NG_005895.1:g.46157C>G , LRG_487:g.46157C>G | |
| NG_008617.1:g.52759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12267G>C MANE Select | ENSP00000262304.4:p.Gly4089= | |
| ENST00000262304.8:c.12267G>C | ENSP00000262304.4:p.Gly4089= | |
| ENST00000423118.5:c.12264G>C | ENSP00000399501.1:p.Gly4088= | |
| ENST00000472577.1:n.295G>C | ||
| NM_000296.3:c.12264G>C | NP_000287.3:p.Gly4088= | |
| NM_001009944.2:c.12267G>C | NP_001009944.2:p.Gly4089= | |
| XM_005255370.2:c.9222G>C | XP_005255427.1:p.Gly3074= | |
| XM_011522525.1:c.12345G>C | XP_011520827.1:p.Gly4115= | |
| XM_011522526.1:c.12342G>C | XP_011520828.1:p.Gly4114= | |
| XM_011522527.1:c.12327G>C | XP_011520829.1:p.Gly4109= | |
| XM_011522528.1:c.12321G>C | XP_011520830.1:p.Gly4107= | |
| XM_011522529.1:c.12318G>C | XP_011520831.1:p.Gly4106= | |
| XM_011522530.1:c.12291G>C | XP_011520832.1:p.Gly4097= | |
| XM_011522531.1:c.12273G>C | XP_011520833.1:p.Gly4091= | |
| XM_011522532.1:c.12219G>C | XP_011520834.1:p.Gly4073= | |
| XM_011522533.1:c.12138G>C | XP_011520835.1:p.Gly4046= | |
| XM_011522534.1:c.12081G>C | XP_011520836.1:p.Gly4027= | |
| XM_011522535.1:c.10167G>C | XP_011520837.1:p.Gly3389= | |
| XM_011522537.1:c.9345G>C | XP_011520839.1:p.Gly3115= | |
| XR_932867.1:n.12185G>C | ||
| XM_005255370.3:c.9222G>C | XP_005255427.1:p.Gly3074= | |
| XM_011522528.3:c.12321G>C | XP_011520830.1:p.Gly4107= | |
| XM_011522529.2:c.12318G>C | XP_011520831.1:p.Gly4106= | |
| XM_011522537.2:c.9345G>C | XP_011520839.1:p.Gly3115= | |
| XM_024450298.1:c.12387G>C | XP_024306066.1:p.Gly4129= | |
| XM_024450299.1:c.12315G>C | XP_024306067.1:p.Gly4105= | |
| XM_024450300.1:c.12177G>C | XP_024306068.1:p.Gly4059= | |
| XM_024450301.1:c.10263G>C | XP_024306069.1:p.Gly3421= | |
| NM_000296.4:c.12264G>C | NP_000287.4:p.Gly4088= | |
| NM_001009944.3:c.12267G>C MANE Select | NP_001009944.3:p.Gly4089= |