Linked Data
ClinVar Variation Id:
441085
dbSNP Id:
rs373718659
ExAC:
9:396780 C / T
gnomAD v2:
9-396780-C-T
gnomAD v3:
9-396780-C-T
gnomAD v4:
9-396780-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.396780C>T , CM000671.2:g.396780C>T | GRCh38 |
| NC_000009.11:g.396780C>T , CM000671.1:g.396780C>T | GRCh37 |
| NC_000009.10:g.386780C>T | NCBI36 |
| NG_017007.1:g.186916C>T , LRG_196:g.186916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2671-5C>T | ENSP00000371766.2:n.2671-5C>T | |
| ENST00000382331.6:n.1468-5C>T | ||
| ENST00000682260.1:n.2867-5C>T | ||
| ENST00000685949.1:n.1759-5C>T | ||
| ENST00000432829.7:c.2971-5C>T MANE Select | ENSP00000394888.3:n.2971-5C>T | |
| ENST00000382329.1:c.1372-5C>T | ENSP00000371766.1:n.1372-5C>T | |
| ENST00000382331.5:c.877-5C>T | ENSP00000371768.1:n.877-5C>T | |
| ENST00000432829.6:c.2971-5C>T | ENSP00000394888.3:n.2971-5C>T | |
| ENST00000453981.5:c.2767-5C>T | ENSP00000408464.2:n.2767-5C>T | |
| ENST00000469391.5:c.2671-5C>T | ENSP00000419438.1:n.2671-5C>T | |
| ENST00000495184.5:n.4926-5C>T | ||
| NM_001190458.1:c.2671-5C>T | NP_001177387.1:n.2671-5C>T | |
| NM_001193536.1:c.2767-5C>T | NP_001180465.1:n.2767-5C>T | |
| NM_203447.3:c.2971-5C>T , LRG_196t1:c.2971-5C>T | NP_982272.2:n.2971-5C>T | |
| XM_011518045.1:c.2671-5C>T | XP_011516347.1:n.2671-5C>T | |
| XM_011518046.1:c.2833-5C>T | XP_011516348.1:n.2833-5C>T | |
| XM_011518047.1:c.2767-5C>T | XP_011516349.1:n.2767-5C>T | |
| XM_011518048.1:c.2767-5C>T | XP_011516350.1:n.2767-5C>T | |
| XM_011518049.1:c.1207-5C>T | XP_011516351.1:n.1207-5C>T | |
| XM_011518045.3:c.2671-5C>T | XP_011516347.1:n.2671-5C>T | |
| XM_011518046.2:c.2833-5C>T | XP_011516348.1:n.2833-5C>T | |
| XM_011518047.3:c.2767-5C>T | XP_011516349.1:n.2767-5C>T | |
| XM_011518048.2:c.2767-5C>T | XP_011516350.1:n.2767-5C>T | |
| XM_011518049.2:c.1207-5C>T | XP_011516351.1:n.1207-5C>T | |
| XM_017015173.1:c.2767-5C>T | XP_016870662.1:n.2767-5C>T | |
| XM_017015174.1:c.2833-5C>T | XP_016870663.1:n.2833-5C>T | |
| NM_001190458.2:c.2671-5C>T | NP_001177387.1:n.2671-5C>T | |
| NM_001193536.2:c.2767-5C>T | NP_001180465.1:n.2767-5C>T | |
| NM_203447.4:c.2971-5C>T MANE Select | NP_982272.2:n.2971-5C>T |