Linked Data
dbSNP Id:
rs1908668059
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624569G>A , CM000679.2:g.41624569G>A | GRCh38 |
| NC_000017.10:g.39780821G>A , CM000679.1:g.39780821G>A | GRCh37 |
| NC_000017.9:g.37034347G>A | NCBI36 |
| NG_008625.1:g.5062C>T | |
| NG_009090.2:g.167144C>T , LRG_401:g.167144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.-60C>T MANE Select | ENSP00000308452.8:n.-60C>T | |
| ENST00000311208.12:c.-60C>T | ENSP00000308452.8:n.-60C>T | |
| ENST00000463128.5:c.-313+174C>T | ENSP00000468672.1:n.-313+174C>T | |
| ENST00000491673.1:n.7C>T | ||
| NM_000422.2:c.-60C>T | NP_000413.1:n.-60C>T | |
| NM_000422.3:c.-60C>T MANE Select | NP_000413.1:n.-60C>T |