dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30029078T>A , CM000668.2:g.30029078T>A | GRCh38 |
| NC_000006.11:g.29996855T>A , CM000668.1:g.29996855T>A | GRCh37 |
| NC_000006.10:g.30104834T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000701313.1:n.702+5830A>T | ||
| ENST00000701715.1:n.442+5830A>T | ||
| ENST00000702304.1:n.411-19247A>T | ||
| ENST00000685581.1:n.497-7317A>T | ||
| ENST00000688495.1:n.360+29037A>T | ||
| ENST00000376797.7:n.530+5830A>T | ||
| ENST00000420251.5:n.708+5830A>T | ||
| ENST00000425604.5:n.265-26346A>T | ||
| ENST00000437417.5:n.1247+5830A>T | ||
| ENST00000444051.1:n.108+5830A>T | ||
| ENST00000448093.5:n.480-7317A>T | ||
| NR_026751.1:n.708+5830A>T | ||
| NR_026751.2:n.713+5830A>T | ||
| NR_145416.1:n.713+5830A>T |