Linked Data
dbSNP Id:
rs1378544053
gnomAD v2:
5-134364237-T-C
gnomAD v3:
5-135028547-T-C
gnomAD v4:
5-135028547-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028547T>C , CM000667.2:g.135028547T>C | GRCh38 |
| NC_000005.9:g.134364237T>C , CM000667.1:g.134364237T>C | GRCh37 |
| NC_000005.8:g.134392136T>C | NCBI36 |
| NG_012114.1:g.10728A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*232A>G MANE Select | ENSP00000265340.6:n.*232A>G | |
| ENST00000265340.11:c.*232A>G | ENSP00000265340.6:n.*232A>G | |
| NM_002653.4:c.*232A>G | NP_002644.4:n.*232A>G | |
| NM_002653.5:c.*232A>G MANE Select | NP_002644.4:n.*232A>G |