dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92679633G>C , CM000675.2:g.92679633G>C | GRCh38 |
| NC_000013.10:g.93331886G>C , CM000675.1:g.93331886G>C | GRCh37 |
| NC_000013.9:g.92129887G>C | NCBI36 |
| NG_009370.1:g.1285952G>C | |
| NG_009370.2:g.1285953G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377067.9:c.1562-186649G>C MANE Select | ENSP00000366267.3:n.1562-186649G>C | |
| ENST00000377067.8:c.1562-186649G>C | ENSP00000366267.3:n.1562-186649G>C | |
| NM_004466.5:c.1562-186649G>C | NP_004457.1:n.1562-186649G>C | |
| XM_017020435.2:c.1562-70331G>C | XP_016875924.1:n.1562-70331G>C | |
| XR_931643.3:n.95C>G | ||
| XR_931644.2:n.95C>G | ||
| NM_004466.6:c.1562-186649G>C MANE Select | NP_004457.1:n.1562-186649G>C |