Linked Data
dbSNP Id:
rs1209981003
gnomAD v2:
9-128001244-C-G
gnomAD v3:
9-125238965-C-G
gnomAD v4:
9-125238965-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125238965C>G , CM000671.2:g.125238965C>G | GRCh38 |
| NC_000009.11:g.128001244C>G , CM000671.1:g.128001244C>G | GRCh37 |
| NC_000009.10:g.127041065C>G | NCBI36 |
| NG_027761.1:g.7423G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324460.7:c.972G>C MANE Select | ENSP00000324173.6:p.Arg324= | |
| ENST00000679355.1:n.1214G>C | ||
| ENST00000679475.1:n.1556G>C | ||
| ENST00000680032.1:c.972G>C | ENSP00000506285.1:p.Arg324= | |
| ENST00000680234.1:n.1228G>C | ||
| ENST00000680257.1:n.1228G>C | ||
| ENST00000680272.1:c.972G>C | ENSP00000506097.1:p.Arg324= | |
| ENST00000680494.1:n.2283G>C | ||
| ENST00000680640.1:n.1923G>C | ||
| ENST00000681045.1:n.1852G>C | ||
| ENST00000681424.1:n.1214G>C | ||
| ENST00000681540.1:n.1228G>C | ||
| ENST00000681544.1:n.1303G>C | ||
| ENST00000681675.1:n.1852G>C | ||
| ENST00000681774.1:n.2194G>C | ||
| ENST00000324460.6:c.972G>C | ENSP00000324173.6:p.Arg324= | |
| NM_005347.4:c.972G>C | NP_005338.1:p.Arg324= | |
| NM_005347.5:c.972G>C MANE Select | NP_005338.1:p.Arg324= |