Linked Data
dbSNP Id:
rs1238115047
gnomAD v2:
12-52314705-T-G
gnomAD v3:
12-51920921-T-G
gnomAD v4:
12-51920921-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920921T>G , CM000674.2:g.51920921T>G | GRCh38 |
| NC_000012.11:g.52314705T>G , CM000674.1:g.52314705T>G | GRCh37 |
| NC_000012.10:g.50600972T>G | NCBI36 |
| NG_009549.1:g.18504T>G , LRG_543:g.18504T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.*28T>G | ENSP00000455848.2:n.*28T>G | |
| ENST00000388922.9:c.*28T>G MANE Select | ENSP00000373574.4:n.*28T>G | |
| ENST00000388922.8:c.*28T>G | ENSP00000373574.4:n.*28T>G | |
| ENST00000419526.6:c.*28T>G | ENSP00000392492.2:n.*28T>G | |
| ENST00000550683.5:c.*28T>G | ENSP00000447884.1:n.*28T>G | |
| NM_000020.2:c.*28T>G , LRG_543t1:c.*28T>G | NP_000011.2:n.*28T>G | |
| NM_001077401.1:c.*28T>G | NP_001070869.1:n.*28T>G | |
| XM_005269235.2:c.*28T>G | XP_005269292.1:n.*28T>G | |
| XM_011539008.1:c.*28T>G | XP_011537310.1:n.*28T>G | |
| XM_024449279.1:c.*28T>G | XP_024305047.1:n.*28T>G | |
| NM_000020.3:c.*28T>G MANE Select | NP_000011.2:n.*28T>G | |
| NM_001077401.2:c.*28T>G | NP_001070869.1:n.*28T>G |