Linked Data
dbSNP Id:
rs759959206
ExAC:
9:97367735 T / G
gnomAD v2:
9-97367735-T-G
gnomAD v4:
9-94605453-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94605453T>G , CM000671.2:g.94605453T>G | GRCh38 |
| NC_000009.11:g.97367735T>G , CM000671.1:g.97367735T>G | GRCh37 |
| NC_000009.10:g.96407556T>G | NCBI36 |
| NG_008174.1:g.39797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.985+4A>C | ENSP00000507547.1:n.985+4A>C | |
| ENST00000375326.9:c.825+4A>C MANE Select | ENSP00000364475.5:n.825+4A>C | |
| ENST00000648117.1:c.630+4A>C | ENSP00000498145.1:n.630+4A>C | |
| ENST00000375326.8:c.825+4A>C | ENSP00000364475.4:n.825+4A>C | |
| ENST00000415431.5:c.825+4A>C | ENSP00000408025.1:n.825+4A>C | |
| NM_000507.3:c.825+4A>C | NP_000498.2:n.825+4A>C | |
| NM_001127628.1:c.825+4A>C | NP_001121100.1:n.825+4A>C | |
| XM_006717005.2:c.579+4A>C | XP_006717068.1:n.579+4A>C | |
| XM_006717005.4:c.579+4A>C | XP_006717068.1:n.579+4A>C | |
| NM_000507.4:c.825+4A>C MANE Select | NP_000498.2:n.825+4A>C | |
| NM_001127628.2:c.825+4A>C | NP_001121100.1:n.825+4A>C |