Linked Data
dbSNP Id:
rs401681
gnomAD v2:
5-1322087-C-T
gnomAD v3:
5-1321972-C-T
gnomAD v4:
5-1321972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1321972C>T , CM000667.2:g.1321972C>T | GRCh38 |
| NC_000005.9:g.1322087C>T , CM000667.1:g.1322087C>T | GRCh37 |
| NC_000005.8:g.1375087C>T | NCBI36 |
| NG_046903.1:g.28094G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320895.10:c.1316-153G>A MANE Select | ENSP00000313854.5:n.1316-153G>A | |
| ENST00000320895.9:c.1316-153G>A | ENSP00000313854.5:n.1316-153G>A | |
| ENST00000503042.5:n.2738-153G>A | ||
| ENST00000503534.5:n.247-153G>A | ||
| ENST00000505605.5:n.214-153G>A | ||
| ENST00000505914.5:n.287-153G>A | ||
| ENST00000506641.5:n.477-153G>A | ||
| ENST00000507195.5:n.412-153G>A | ||
| ENST00000507807.3:c.809-153G>A | ENSP00000423321.1:n.809-153G>A | |
| ENST00000511268.6:n.80-153G>A | ||
| ENST00000512451.5:n.40-153G>A | ||
| ENST00000630539.1:c.809-153G>A | ENSP00000485923.1:n.809-153G>A | |
| NM_030782.3:c.1316-153G>A | NP_110409.2:n.1316-153G>A | |
| NM_030782.4:c.1316-153G>A | NP_110409.2:n.1316-153G>A | |
| XM_011514144.1:c.1313-153G>A | XP_011512446.1:n.1313-153G>A | |
| XM_011514144.2:c.1313-153G>A | XP_011512446.1:n.1313-153G>A | |
| XM_024446221.1:c.1316-153G>A | XP_024301989.1:n.1316-153G>A | |
| XM_024446222.1:c.782-153G>A | XP_024301990.1:n.782-153G>A | |
| XR_002956182.1:n.1359-153G>A | ||
| XR_002956183.1:n.1537-153G>A | ||
| NM_030782.5:c.1316-153G>A MANE Select | NP_110409.2:n.1316-153G>A |