Linked Data
ClinVar Variation Id:
698590
ClinVar RCV Id:
RCV000866061
dbSNP Id:
rs766709160
ExAC:
5:13752279 C / T
gnomAD v2:
5-13752279-C-T
gnomAD v3:
5-13752170-C-T
gnomAD v4:
5-13752170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752170C>T , CM000667.2:g.13752170C>T | GRCh38 |
| NC_000005.9:g.13752279C>T , CM000667.1:g.13752279C>T | GRCh37 |
| NC_000005.8:g.13805279C>T | NCBI36 |
| NG_013081.1:g.197311G>A | |
| NG_013081.2:g.197311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10992G>A MANE Select | ENSP00000265104.4:p.Leu3664= | |
| ENST00000681290.1:c.10947G>A | ENSP00000505288.1:p.Leu3649= | |
| ENST00000265104.4:c.10992G>A | ENSP00000265104.4:p.Leu3664= | |
| NM_001369.2:c.10992G>A | NP_001360.1:p.Leu3664= | |
| XM_005248262.2:c.10947G>A | XP_005248319.1:p.Leu3649= | |
| XM_005248262.3:c.11100G>A | XP_005248319.2:p.Leu3700= | |
| XM_017009177.1:c.11100G>A | XP_016864666.1:p.Leu3700= | |
| XM_017009178.1:c.10005G>A | XP_016864667.1:p.Leu3335= | |
| XM_017009179.2:c.10005G>A | XP_016864668.1:p.Leu3335= | |
| XM_017009180.1:c.11100G>A | XP_016864669.1:p.Leu3700= | |
| XM_017009181.1:c.11100G>A | XP_016864670.1:p.Leu3700= | |
| XM_017009182.1:c.11100G>A | XP_016864671.1:p.Leu3700= | |
| XM_017009185.1:c.6189G>A | XP_016864674.1:p.Leu2063= | |
| XM_017009186.1:c.5742G>A | XP_016864675.1:p.Leu1914= | |
| XM_017009188.1:c.5079G>A | XP_016864677.1:p.Leu1693= | |
| XM_024454388.1:c.10005G>A | XP_024310156.1:p.Leu3335= | |
| XM_024454389.1:c.9594G>A | XP_024310157.1:p.Leu3198= | |
| NM_001369.3:c.10992G>A MANE Select | NP_001360.1:p.Leu3664= |