Linked Data
dbSNP Id:
rs1231899567
gnomAD v2:
16-75512854-A-T
gnomAD v3:
16-75478956-A-T
gnomAD v4:
16-75478956-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75478956A>T , CM000678.2:g.75478956A>T | GRCh38 |
| NC_000016.9:g.75512854A>T , CM000678.1:g.75512854A>T | GRCh37 |
| NC_000016.8:g.74070355A>T | NCBI36 |
| NG_016442.1:g.21073T>A | |
| NG_016442.2:g.21486T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.873T>A MANE Select | ENSP00000328983.4:p.Thr291= | |
| ENST00000390664.3:c.873T>A | ENSP00000375079.2:p.Thr291= | |
| ENST00000649341.1:c.873T>A | ENSP00000497635.1:p.Thr291= | |
| ENST00000649824.1:c.873T>A | ENSP00000496806.1:p.Thr291= | |
| ENST00000332272.8:c.873T>A | ENSP00000328983.4:p.Thr291= | |
| ENST00000390664.2:c.873T>A | ENSP00000375079.2:p.Thr291= | |
| NM_021615.4:c.873T>A | NP_067628.1:p.Thr291= | |
| XM_005255955.3:c.873T>A | XP_005256012.1:p.Thr291= | |
| XM_011523085.1:c.873T>A | XP_011521387.1:p.Thr291= | |
| NM_021615.5:c.873T>A MANE Select | NP_067628.1:p.Thr291= | |
| XM_005255955.5:c.873T>A | XP_005256012.1:p.Thr291= | |
| XM_011523085.3:c.873T>A | XP_011521387.1:p.Thr291= | |
| NR_163480.1:n.733+2861T>A | ||
| NR_163481.1:n.577+2861T>A |