Linked Data
ClinVar Variation Id:
239668
ClinVar RCV Id:
RCV000228365
RCV000287726
RCV000383376
RCV000345164
RCV000572868
RCV003475076
RCV003477820
dbSNP Id:
rs375576259
ExAC:
5:225663 G / A
gnomAD v2:
5-225663-G-A
gnomAD v3:
5-225548-G-A
gnomAD v4:
5-225548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225548G>A , CM000667.2:g.225548G>A | GRCh38 |
| NC_000005.9:g.225663G>A , CM000667.1:g.225663G>A | GRCh37 |
| NC_000005.8:g.278663G>A | NCBI36 |
| NG_012339.1:g.12308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.442G>A MANE Select | ENSP00000264932.6:p.Ala148Thr | |
| ENST00000651543.1:c.442G>A | ENSP00000499215.1:p.Ala148Thr | |
| ENST00000264932.10:c.442G>A | ENSP00000264932.6:p.Ala148Thr | |
| ENST00000504309.5:c.442G>A | ENSP00000426514.1:p.Ala148Thr | |
| ENST00000504824.5:n.427G>A | ||
| ENST00000505555.5:n.482G>A | ||
| ENST00000509632.5:c.*270G>A | ENSP00000425077.1:n.*270G>A | |
| ENST00000510361.5:c.313-335G>A | ENSP00000427703.1:n.313-335G>A | |
| ENST00000617470.4:c.380+62G>A | ENSP00000484230.1:n.380+62G>A | |
| NM_001294332.1:c.313-335G>A | NP_001281261.1:n.313-335G>A | |
| NM_004168.3:c.442G>A | NP_004159.2:p.Ala148Thr | |
| XM_005248331.2:c.442G>A | XP_005248388.1:p.Ala148Thr | |
| XM_011514072.1:c.442G>A | XP_011512374.1:p.Ala148Thr | |
| XM_011514073.1:c.442G>A | XP_011512375.1:p.Ala148Thr | |
| XR_925638.1:n.575G>A | ||
| NM_001330758.1:c.442G>A | NP_001317687.1:p.Ala148Thr | |
| XM_011514072.2:c.442G>A | XP_011512374.1:p.Ala148Thr | |
| XM_011514073.2:c.442G>A | XP_011512375.1:p.Ala148Thr | |
| XM_017009685.2:c.442G>A | XP_016865174.1:p.Ala148Thr | |
| XM_024446143.1:c.313-335G>A | XP_024301911.1:n.313-335G>A | |
| XR_002956167.1:n.489G>A | ||
| NM_004168.4:c.442G>A MANE Select | NP_004159.2:p.Ala148Thr | |
| NM_001294332.2:c.313-335G>A | NP_001281261.1:n.313-335G>A | |
| NM_001330758.2:c.442G>A | NP_001317687.1:p.Ala148Thr |