Linked Data
ClinVar Variation Id:
2374951
ClinVar RCV Id:
RCV004213072
dbSNP Id:
rs552129194
ExAC:
9:130575626 G / A
gnomAD v2:
9-130575626-G-A
gnomAD v3:
9-127813347-G-A
gnomAD v4:
9-127813347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813347G>A , CM000671.2:g.127813347G>A | GRCh38 |
| NC_000009.11:g.130575626G>A , CM000671.1:g.130575626G>A | GRCh37 |
| NC_000009.10:g.129615447G>A | NCBI36 |
| NG_009551.1:g.46422C>T , LRG_589:g.46422C>T | |
| NG_023245.1:g.15473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1507G>A MANE Select | ENSP00000362344.2:p.Ala503Thr | |
| ENST00000373225.7:c.1357G>A | ENSP00000362322.3:p.Ala453Thr | |
| ENST00000373228.5:c.*164G>A | ENSP00000362325.1:n.*164G>A | |
| ENST00000373247.6:c.1507G>A | ENSP00000362344.2:p.Ala503Thr | |
| ENST00000393706.6:c.1429G>A | ENSP00000377309.2:p.Ala477Thr | |
| ENST00000460181.5:n.1495G>A | ||
| ENST00000467826.5:n.709+24G>A | ||
| ENST00000475270.1:n.333G>A | ||
| ENST00000630236.2:c.*231G>A | ENSP00000486766.1:n.*231G>A | |
| NM_001018078.2:c.1357G>A | NP_001018088.1:p.Ala453Thr | |
| NM_001288803.1:c.1429G>A | NP_001275732.1:p.Ala477Thr | |
| NM_004957.5:c.1507G>A | NP_004948.4:p.Ala503Thr | |
| NR_110170.1:n.1555G>A | ||
| XM_005251864.2:c.1483+24G>A | XP_005251921.1:n.1483+24G>A | |
| XM_011518437.1:c.1357G>A | XP_011516739.1:p.Ala453Thr | |
| XM_011518438.1:c.1357G>A | XP_011516740.1:p.Ala453Thr | |
| XM_011518439.1:c.664G>A | XP_011516741.1:p.Ala222Thr | |
| XR_242581.2:n.1404G>A | ||
| XR_242582.2:n.1380+24G>A | ||
| XM_005251864.4:c.1483+24G>A | XP_005251921.1:n.1483+24G>A | |
| XM_011518439.2:c.664G>A | XP_011516741.1:p.Ala222Thr | |
| XM_017014565.2:c.1333+24G>A | XP_016870054.1:n.1333+24G>A | |
| XM_017014566.1:c.664G>A | XP_016870055.1:p.Ala222Thr | |
| XR_242581.4:n.1402G>A | ||
| XR_242582.4:n.1378+24G>A | ||
| NM_004957.6:c.1507G>A MANE Select | NP_004948.4:p.Ala503Thr |