Linked Data
dbSNP Id:
rs962845320
gnomAD v2:
16-89220344-G-T
gnomAD v3:
16-89153936-G-T
gnomAD v4:
16-89153936-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89153936G>T , CM000678.2:g.89153936G>T | GRCh38 |
| NC_000016.9:g.89220344G>T , CM000678.1:g.89220344G>T | GRCh37 |
| NC_000016.8:g.87747845G>T | NCBI36 |
| NG_031961.1:g.65128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1614-154G>T | ENSP00000320646.4:n.1614-154G>T | |
| ENST00000614302.5:c.1614-154G>T MANE Select | ENSP00000479130.1:n.1614-154G>T | |
| ENST00000649953.1:c.1824-154G>T | ENSP00000497456.1:n.1824-154G>T | |
| ENST00000317447.8:c.1614-154G>T | ENSP00000320646.4:n.1614-154G>T | |
| ENST00000378345.8:c.819-154G>T | ENSP00000367596.4:n.819-154G>T | |
| ENST00000393145.5:n.6370G>T | ||
| ENST00000406948.7:c.1614-154G>T | ENSP00000384627.3:n.1614-154G>T | |
| ENST00000537116.5:n.740-154G>T | ||
| ENST00000537155.1:n.354-154G>T | ||
| ENST00000542688.5:c.*358-154G>T | ENSP00000446281.1:n.*358-154G>T | |
| ENST00000614302.4:c.1614-154G>T | ENSP00000479130.1:n.1614-154G>T | |
| NM_001127214.3:c.1614-154G>T | NP_001120686.1:n.1614-154G>T | |
| NM_001243279.2:c.1614-154G>T | NP_001230208.1:n.1614-154G>T | |
| NM_001284316.1:c.819-154G>T | NP_001271245.1:n.819-154G>T | |
| NM_174917.4:c.1614-154G>T | NP_777577.2:n.1614-154G>T | |
| NR_045667.2:n.740-154G>T | ||
| NR_104293.1:n.2048-154G>T | ||
| XR_933239.1:n.2055-154G>T | ||
| XR_933240.1:n.2052-154G>T | ||
| XR_933241.1:n.1809-154G>T | ||
| NR_147928.1:n.2092-154G>T | ||
| NR_147929.1:n.1846-154G>T | ||
| XM_017023020.2:c.-3491-154G>T | XP_016878509.1:n.-3491-154G>T | |
| XM_024450187.1:c.819-154G>T | XP_024305955.1:n.819-154G>T | |
| XR_001751864.2:n.1861-154G>T | ||
| XR_933240.3:n.2051-154G>T | ||
| NM_001127214.4:c.1614-154G>T | NP_001120686.1:n.1614-154G>T | |
| NM_001243279.3:c.1614-154G>T MANE Select | NP_001230208.1:n.1614-154G>T | |
| NM_001284316.2:c.819-154G>T | NP_001271245.1:n.819-154G>T | |
| NM_174917.5:c.1614-154G>T | NP_777577.2:n.1614-154G>T | |
| NR_104293.2:n.2005-154G>T | ||
| NR_147928.2:n.2049-154G>T | ||
| NR_147929.2:n.1803-154G>T |