Linked Data
ClinVar Variation Id:
858718
ClinVar RCV Id:
RCV001064656
dbSNP Id:
rs371436275
ExAC:
5:13776620 T / G
gnomAD v2:
5-13776620-T-G
gnomAD v3:
5-13776511-T-G
gnomAD v4:
5-13776511-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776511T>G , CM000667.2:g.13776511T>G | GRCh38 |
| NC_000005.9:g.13776620T>G , CM000667.1:g.13776620T>G | GRCh37 |
| NC_000005.8:g.13829620T>G | NCBI36 |
| NG_013081.1:g.172970A>C | |
| NG_013081.2:g.172970A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9301A>C MANE Select | ENSP00000265104.4:p.Lys3101Gln | |
| ENST00000681290.1:c.9256A>C | ENSP00000505288.1:p.Lys3086Gln | |
| ENST00000265104.4:c.9301A>C | ENSP00000265104.4:p.Lys3101Gln | |
| NM_001369.2:c.9301A>C | NP_001360.1:p.Lys3101Gln | |
| XM_005248262.2:c.9256A>C | XP_005248319.1:p.Lys3086Gln | |
| XM_005248262.3:c.9409A>C | XP_005248319.2:p.Lys3137Gln | |
| XM_017009177.1:c.9409A>C | XP_016864666.1:p.Lys3137Gln | |
| XM_017009178.1:c.8314A>C | XP_016864667.1:p.Lys2772Gln | |
| XM_017009179.2:c.8314A>C | XP_016864668.1:p.Lys2772Gln | |
| XM_017009180.1:c.9409A>C | XP_016864669.1:p.Lys3137Gln | |
| XM_017009181.1:c.9409A>C | XP_016864670.1:p.Lys3137Gln | |
| XM_017009182.1:c.9409A>C | XP_016864671.1:p.Lys3137Gln | |
| XM_017009183.1:c.9409A>C | XP_016864672.1:p.Lys3137Gln | |
| XM_017009185.1:c.4498A>C | XP_016864674.1:p.Lys1500Gln | |
| XM_017009186.1:c.4051A>C | XP_016864675.1:p.Lys1351Gln | |
| XM_017009188.1:c.3388A>C | XP_016864677.1:p.Lys1130Gln | |
| XM_024454388.1:c.8314A>C | XP_024310156.1:p.Lys2772Gln | |
| XM_024454389.1:c.7903A>C | XP_024310157.1:p.Lys2635Gln | |
| NM_001369.3:c.9301A>C MANE Select | NP_001360.1:p.Lys3101Gln |