Linked Data
ClinVar Variation Id:
407252
ClinVar RCV Id:
RCV000464982
dbSNP Id:
rs181884470
ExAC:
5:13829654 G / T
gnomAD v2:
5-13829654-G-T
gnomAD v3:
5-13829545-G-T
gnomAD v4:
5-13829545-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13829545G>T , CM000667.2:g.13829545G>T | GRCh38 |
| NC_000005.9:g.13829654G>T , CM000667.1:g.13829654G>T | GRCh37 |
| NC_000005.8:g.13882654G>T | NCBI36 |
| NG_013081.1:g.119936C>A | |
| NG_013081.2:g.119936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683090.1:n.1340C>A | ||
| ENST00000265104.5:c.6409C>A MANE Select | ENSP00000265104.4:p.Leu2137Ile | |
| ENST00000681290.1:c.6364C>A | ENSP00000505288.1:p.Leu2122Ile | |
| ENST00000265104.4:c.6409C>A | ENSP00000265104.4:p.Leu2137Ile | |
| NM_001369.2:c.6409C>A | NP_001360.1:p.Leu2137Ile | |
| XM_005248262.2:c.6364C>A | XP_005248319.1:p.Leu2122Ile | |
| XM_011513990.1:c.6409C>A | XP_011512292.1:p.Leu2137Ile | |
| XR_925598.1:n.6616C>A | ||
| XM_005248262.3:c.6517C>A | XP_005248319.2:p.Leu2173Ile | |
| XM_017009177.1:c.6517C>A | XP_016864666.1:p.Leu2173Ile | |
| XM_017009178.1:c.5422C>A | XP_016864667.1:p.Leu1808Ile | |
| XM_017009179.2:c.5422C>A | XP_016864668.1:p.Leu1808Ile | |
| XM_017009180.1:c.6517C>A | XP_016864669.1:p.Leu2173Ile | |
| XM_017009181.1:c.6517C>A | XP_016864670.1:p.Leu2173Ile | |
| XM_017009182.1:c.6517C>A | XP_016864671.1:p.Leu2173Ile | |
| XM_017009183.1:c.6517C>A | XP_016864672.1:p.Leu2173Ile | |
| XM_017009184.1:c.6517C>A | XP_016864673.1:p.Leu2173Ile | |
| XM_017009185.1:c.1606C>A | XP_016864674.1:p.Leu536Ile | |
| XM_017009186.1:c.1159C>A | XP_016864675.1:p.Leu387Ile | |
| XM_017009187.1:c.6517C>A | XP_016864676.1:p.Leu2173Ile | |
| XM_017009188.1:c.496C>A | XP_016864677.1:p.Leu166Ile | |
| XM_024454388.1:c.5422C>A | XP_024310156.1:p.Leu1808Ile | |
| XM_024454389.1:c.5011C>A | XP_024310157.1:p.Leu1671Ile | |
| XR_001742034.1:n.6534C>A | ||
| XR_001742035.1:n.6534C>A | ||
| NM_001369.3:c.6409C>A MANE Select | NP_001360.1:p.Leu2137Ile |