Linked Data
ClinVar Variation Id:
437458
dbSNP Id:
rs374309697
ExAC:
9:35741660 G / T
gnomAD v2:
9-35741660-G-T
gnomAD v3:
9-35741663-G-T
gnomAD v4:
9-35741663-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35741663G>T , CM000671.2:g.35741663G>T | GRCh38 |
| NC_000009.11:g.35741660G>T , CM000671.1:g.35741660G>T | GRCh37 |
| NC_000009.10:g.35731660G>T | NCBI36 |
| NG_033899.1:g.12566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378094.4:c.786+9C>A | ENSP00000367334.4:n.786+9C>A | |
| ENST00000378103.7:c.786+9C>A MANE Select | ENSP00000367343.3:n.786+9C>A | |
| ENST00000467252.5:n.358+9C>A | ||
| ENST00000485259.1:n.374C>A | ||
| NM_020944.2:c.786+9C>A | NP_065995.1:n.786+9C>A | |
| XM_005251526.3:c.804+9C>A | XP_005251583.1:n.804+9C>A | |
| XM_006716809.2:c.804+9C>A | XP_006716872.1:n.804+9C>A | |
| XM_011517969.1:c.804+9C>A | XP_011516271.1:n.804+9C>A | |
| XM_011517970.1:c.786+9C>A | XP_011516272.1:n.786+9C>A | |
| XM_011517971.1:c.804+9C>A | XP_011516273.1:n.804+9C>A | |
| XM_011517972.1:c.804+9C>A | XP_011516274.1:n.804+9C>A | |
| XM_011517973.1:c.786+9C>A | XP_011516275.1:n.786+9C>A | |
| XM_011517974.1:c.568-599C>A | XP_011516276.1:n.568-599C>A | |
| XM_011517975.1:c.356+9C>A | XP_011516277.1:n.356+9C>A | |
| XM_011517976.1:c.338+9C>A | XP_011516278.1:n.338+9C>A | |
| XM_011517977.1:c.254+9C>A | XP_011516279.1:n.254+9C>A | |
| XM_011517978.1:c.236+9C>A | XP_011516280.1:n.236+9C>A | |
| XM_011517979.1:c.236+9C>A | XP_011516281.1:n.236+9C>A | |
| NM_001330660.1:c.786+9C>A | NP_001317589.1:n.786+9C>A | |
| XM_005251526.5:c.804+9C>A | XP_005251583.1:n.804+9C>A | |
| XM_006716809.4:c.804+9C>A | XP_006716872.1:n.804+9C>A | |
| XM_017014937.2:c.786+9C>A | XP_016870426.1:n.786+9C>A | |
| XM_017014938.2:c.804+9C>A | XP_016870427.1:n.804+9C>A | |
| XM_017014939.2:c.786+9C>A | XP_016870428.1:n.786+9C>A | |
| XM_017014940.2:c.568-599C>A | XP_016870429.1:n.568-599C>A | |
| XM_017014941.2:c.568-599C>A | XP_016870430.1:n.568-599C>A | |
| XM_017014942.2:c.356+9C>A | XP_016870431.1:n.356+9C>A | |
| XM_017014943.2:c.338+9C>A | XP_016870432.1:n.338+9C>A | |
| XM_017014944.1:c.254+9C>A | XP_016870433.1:n.254+9C>A | |
| XM_017014945.1:c.236+9C>A | XP_016870434.1:n.236+9C>A | |
| XM_017014946.2:c.-76+9C>A | XP_016870435.1:n.-76+9C>A | |
| NM_020944.3:c.786+9C>A MANE Select | NP_065995.1:n.786+9C>A | |
| NM_001330660.2:c.786+9C>A | NP_001317589.1:n.786+9C>A |