Linked Data
dbSNP Id:
rs369079697
ExAC:
9:130575672 G / C
gnomAD v2:
9-130575672-G-C
gnomAD v4:
9-127813393-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813393G>C , CM000671.2:g.127813393G>C | GRCh38 |
| NC_000009.11:g.130575672G>C , CM000671.1:g.130575672G>C | GRCh37 |
| NC_000009.10:g.129615493G>C | NCBI36 |
| NG_009551.1:g.46376C>G , LRG_589:g.46376C>G | |
| NG_023245.1:g.15519G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1553G>C MANE Select | ENSP00000362344.2:p.Ser518Thr | |
| ENST00000373225.7:c.1403G>C | ENSP00000362322.3:p.Ser468Thr | |
| ENST00000373228.5:c.*210G>C | ENSP00000362325.1:n.*210G>C | |
| ENST00000373247.6:c.1553G>C | ENSP00000362344.2:p.Ser518Thr | |
| ENST00000393706.6:c.1475G>C | ENSP00000377309.2:p.Ser492Thr | |
| ENST00000460181.5:n.1541G>C | ||
| ENST00000467826.5:n.709+70G>C | ||
| ENST00000475270.1:n.379G>C | ||
| ENST00000630236.2:c.*277G>C | ENSP00000486766.1:n.*277G>C | |
| NM_001018078.2:c.1403G>C | NP_001018088.1:p.Ser468Thr | |
| NM_001288803.1:c.1475G>C | NP_001275732.1:p.Ser492Thr | |
| NM_004957.5:c.1553G>C | NP_004948.4:p.Ser518Thr | |
| NR_110170.1:n.1601G>C | ||
| XM_005251864.2:c.1483+70G>C | XP_005251921.1:n.1483+70G>C | |
| XM_011518437.1:c.1403G>C | XP_011516739.1:p.Ser468Thr | |
| XM_011518438.1:c.1403G>C | XP_011516740.1:p.Ser468Thr | |
| XM_011518439.1:c.710G>C | XP_011516741.1:p.Ser237Thr | |
| XR_242581.2:n.1450G>C | ||
| XR_242582.2:n.1380+70G>C | ||
| XM_005251864.4:c.1483+70G>C | XP_005251921.1:n.1483+70G>C | |
| XM_011518439.2:c.710G>C | XP_011516741.1:p.Ser237Thr | |
| XM_017014565.2:c.1333+70G>C | XP_016870054.1:n.1333+70G>C | |
| XM_017014566.1:c.710G>C | XP_016870055.1:p.Ser237Thr | |
| XR_242581.4:n.1448G>C | ||
| XR_242582.4:n.1378+70G>C | ||
| NM_004957.6:c.1553G>C MANE Select | NP_004948.4:p.Ser518Thr |