Linked Data
ClinVar Variation Id:
353367
ClinVar RCV Id:
RCV000373204
dbSNP Id:
rs377354585
gnomAD v2:
5-36877053-C-T
gnomAD v3:
5-36876951-C-T
gnomAD v4:
5-36876951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36876951C>T , CM000667.2:g.36876951C>T | GRCh38 |
| NC_000005.9:g.36877053C>T , CM000667.1:g.36877053C>T | GRCh37 |
| NC_000005.8:g.36912810C>T | NCBI36 |
| NG_006987.1:g.5069C>T | |
| NG_006987.2:g.5069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.-307C>T MANE Select | ENSP00000282516.8:n.-307C>T | |
| ENST00000652901.1:c.-307C>T | ENSP00000499536.1:n.-307C>T | |
| ENST00000282516.12:c.-307C>T | ENSP00000282516.8:n.-307C>T | |
| ENST00000448238.2:c.-307C>T | ENSP00000406266.2:n.-307C>T | |
| NM_015384.4:c.-307C>T | NP_056199.2:n.-307C>T | |
| NM_133433.3:c.-307C>T | NP_597677.2:n.-307C>T | |
| XM_005248280.2:c.-307C>T | XP_005248337.1:n.-307C>T | |
| XM_006714467.2:c.-307C>T | XP_006714530.1:n.-307C>T | |
| XM_006714468.1:c.-307C>T | XP_006714531.1:n.-307C>T | |
| XM_011514014.1:c.-307C>T | XP_011512316.1:n.-307C>T | |
| XM_011514015.1:c.-307C>T | XP_011512317.1:n.-307C>T | |
| XM_005248280.3:c.-307C>T | XP_005248337.1:n.-307C>T | |
| XM_006714468.2:c.-307C>T | XP_006714531.1:n.-307C>T | |
| XM_017009329.1:c.-307C>T | XP_016864818.1:n.-307C>T | |
| XM_017009331.1:c.-307C>T | XP_016864820.1:n.-307C>T | |
| NM_133433.4:c.-307C>T MANE Select | NP_597677.2:n.-307C>T | |
| NM_015384.5:c.-307C>T | NP_056199.2:n.-307C>T |