Linked Data
ClinVar Variation Id:
224954
ClinVar RCV Id:
RCV000242588
RCV000291485
RCV000346462
RCV000565630
RCV003316166
RCV000210529
RCV000376037
RCV003114371
dbSNP Id:
rs35964044
ExAC:
5:236587 G / T
gnomAD v2:
5-236587-G-T
gnomAD v3:
5-236472-G-T
gnomAD v4:
5-236472-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236472G>T , CM000667.2:g.236472G>T | GRCh38 |
| NC_000005.9:g.236587G>T , CM000667.1:g.236587G>T | GRCh37 |
| NC_000005.8:g.289587G>T | NCBI36 |
| NG_012339.1:g.23232G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1305G>T MANE Select | ENSP00000264932.6:p.Leu435= | |
| ENST00000651543.1:c.*38G>T | ENSP00000499215.1:n.*38G>T | |
| ENST00000264932.10:c.1305G>T | ENSP00000264932.6:p.Leu435= | |
| ENST00000504309.5:c.1305G>T | ENSP00000426514.1:p.Leu435= | |
| ENST00000505555.5:n.1345G>T | ||
| ENST00000510361.5:c.1161G>T | ENSP00000427703.1:p.Leu387= | |
| ENST00000511810.5:n.2052G>T | ||
| ENST00000512962.5:n.891G>T | ||
| ENST00000514027.5:n.1260G>T | ||
| ENST00000515752.5:n.891G>T | ||
| ENST00000617470.4:c.870G>T | ENSP00000484230.1:p.Leu290= | |
| NM_001294332.1:c.1161G>T | NP_001281261.1:p.Leu387= | |
| NM_004168.3:c.1305G>T | NP_004159.2:p.Leu435= | |
| XM_005248331.2:c.1305G>T | XP_005248388.1:p.Leu435= | |
| XM_011514072.1:c.1305G>T | XP_011512374.1:p.Leu435= | |
| XM_011514073.1:c.1305G>T | XP_011512375.1:p.Leu435= | |
| XR_925638.1:n.1438G>T | ||
| NM_001330758.1:c.1305G>T | NP_001317687.1:p.Leu435= | |
| XM_011514072.2:c.1305G>T | XP_011512374.1:p.Leu435= | |
| XM_011514073.2:c.1305G>T | XP_011512375.1:p.Leu435= | |
| XM_017009685.2:c.1305G>T | XP_016865174.1:p.Leu435= | |
| XM_024446143.1:c.1161G>T | XP_024301911.1:p.Leu387= | |
| XR_002956167.1:n.1352G>T | ||
| NM_004168.4:c.1305G>T MANE Select | NP_004159.2:p.Leu435= | |
| NM_001294332.2:c.1161G>T | NP_001281261.1:p.Leu387= | |
| NM_001330758.2:c.1305G>T | NP_001317687.1:p.Leu435= |