dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51008674G>T , CM000681.2:g.51008674G>T | GRCh38 |
| NC_000019.9:g.51511930G>T , CM000681.1:g.51511930G>T | GRCh37 |
| NC_000019.8:g.56203742G>T | NCBI36 |
| NG_027832.1:g.5961C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594211.2:c.200+509C>A MANE Select | ENSP00000469417.1:n.200+509C>A | |
| ENST00000250366.6:c.200+509C>A | ENSP00000250366.5:n.200+509C>A | |
| ENST00000544410.1:c.43+831C>A | ENSP00000443289.1:n.43+831C>A | |
| ENST00000594211.1:c.200+509C>A | ENSP00000469417.1:n.200+509C>A | |
| NM_012315.1:c.200+509C>A | NP_036447.1:n.200+509C>A | |
| NM_012315.2:c.200+509C>A MANE Select | NP_036447.1:n.200+509C>A |