Linked Data
dbSNP Id:
rs2138262220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897292G>C , CM000675.2:g.46897292G>C | GRCh38 |
| NC_000013.10:g.47471427G>C , CM000675.1:g.47471427G>C | GRCh37 |
| NC_000013.9:g.46369428G>C | NCBI36 |
| NG_013011.1:g.4743C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001378924.1:c.-329+660C>G | NP_001365853.1:n.-329+660C>G |