dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28910488T>G , CM000678.2:g.28910488T>G | GRCh38 |
| NC_000016.9:g.28921809T>G , CM000678.1:g.28921809T>G | GRCh37 |
| NC_000016.8:g.28829310T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358201.9:c.1089+400A>C MANE Select | ENSP00000350934.4:n.1089+400A>C | |
| ENST00000357573.10:c.993+400A>C | ENSP00000350186.6:n.993+400A>C | |
| ENST00000358201.8:c.1089+400A>C | ENSP00000350934.4:n.1089+400A>C | |
| ENST00000544477.5:c.876+400A>C | ENSP00000442798.1:n.876+400A>C | |
| ENST00000562590.5:n.2010A>C | ||
| NM_024816.2:c.1089+400A>C | NP_079092.2:n.1089+400A>C | |
| NM_024816.3:c.1089+400A>C MANE Select | NP_079092.2:n.1089+400A>C |