Linked Data
ClinVar Variation Id:
224952
ClinVar RCV Id:
RCV000216190
RCV000224380
RCV000282383
RCV000349064
RCV000374489
RCV000411625
RCV000573807
RCV001080211
dbSNP Id:
rs187964306
ExAC:
5:218487 G / A
gnomAD v2:
5-218487-G-A
gnomAD v3:
5-218372-G-A
gnomAD v4:
5-218372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.218372G>A , CM000667.2:g.218372G>A | GRCh38 |
| NC_000005.9:g.218487G>A , CM000667.1:g.218487G>A | GRCh37 |
| NC_000005.8:g.271487G>A | NCBI36 |
| NG_012339.1:g.5132G>A | |
| NG_033064.1:g.4811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.17G>A MANE Select | ENSP00000264932.6:p.Gly6Asp | |
| ENST00000651543.1:c.17G>A | ENSP00000499215.1:p.Gly6Asp | |
| ENST00000264932.10:c.17G>A | ENSP00000264932.6:p.Gly6Asp | |
| ENST00000502379.5:n.62G>A | ||
| ENST00000504309.5:c.17G>A | ENSP00000426514.1:p.Gly6Asp | |
| ENST00000504824.5:n.2G>A | ||
| ENST00000505555.5:n.57G>A | ||
| ENST00000509632.5:c.17G>A | ENSP00000425077.1:p.Gly6Asp | |
| ENST00000510361.5:c.17G>A | ENSP00000427703.1:p.Gly6Asp | |
| ENST00000617470.4:c.17G>A | ENSP00000484230.1:p.Gly6Asp | |
| NM_001294332.1:c.17G>A | NP_001281261.1:p.Gly6Asp | |
| NM_004168.3:c.17G>A | NP_004159.2:p.Gly6Asp | |
| XM_005248331.2:c.17G>A | XP_005248388.1:p.Gly6Asp | |
| XM_011514072.1:c.17G>A | XP_011512374.1:p.Gly6Asp | |
| XM_011514073.1:c.17G>A | XP_011512375.1:p.Gly6Asp | |
| XR_925638.1:n.150G>A | ||
| NM_001330758.1:c.17G>A | NP_001317687.1:p.Gly6Asp | |
| XM_011514072.2:c.17G>A | XP_011512374.1:p.Gly6Asp | |
| XM_011514073.2:c.17G>A | XP_011512375.1:p.Gly6Asp | |
| XM_017009685.2:c.17G>A | XP_016865174.1:p.Gly6Asp | |
| XM_024446143.1:c.17G>A | XP_024301911.1:p.Gly6Asp | |
| XR_002956167.1:n.64G>A | ||
| NM_004168.4:c.17G>A MANE Select | NP_004159.2:p.Gly6Asp | |
| NM_001294332.2:c.17G>A | NP_001281261.1:p.Gly6Asp | |
| NM_001330758.2:c.17G>A | NP_001317687.1:p.Gly6Asp |