Linked Data
ClinVar Variation Id:
386701
dbSNP Id:
rs1057522580
gnomAD v2:
X-76939901-C-T
gnomAD v4:
X-77684409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77684409C>T , CM000685.2:g.77684409C>T | GRCh38 |
| NC_000023.10:g.76939901C>T , CM000685.1:g.76939901C>T | GRCh37 |
| NC_000023.9:g.76826557C>T | NCBI36 |
| NG_008838.2:g.106813G>A | |
| NG_008838.3:g.106861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.847G>A MANE Select | ENSP00000362441.4:p.Val283Ile | |
| ENST00000373344.9:c.847G>A | ENSP00000362441.4:p.Val283Ile | |
| ENST00000395603.7:c.733G>A | ENSP00000378967.3:p.Val245Ile | |
| ENST00000480283.5:c.*475G>A | ENSP00000480196.1:n.*475G>A | |
| ENST00000623321.3:c.682G>A | ENSP00000485127.1:p.Val228Ile | |
| ENST00000624032.3:c.847G>A | ENSP00000485253.1:p.Val283Ile | |
| ENST00000624166.3:c.730G>A | ENSP00000485103.1:p.Val244Ile | |
| NM_000489.4:c.847G>A | NP_000480.3:p.Val283Ile | |
| NM_138270.3:c.733G>A | NP_612114.2:p.Val245Ile | |
| XM_005262153.3:c.844G>A | XP_005262210.2:p.Val282Ile | |
| XM_005262154.3:c.847G>A | XP_005262211.2:p.Val283Ile | |
| XM_005262155.3:c.730G>A | XP_005262212.2:p.Val244Ile | |
| XM_005262156.3:c.682G>A | XP_005262213.2:p.Val228Ile | |
| XM_005262157.3:c.730G>A | XP_005262214.2:p.Val244Ile | |
| XM_006724666.2:c.730G>A | XP_006724729.1:p.Val244Ile | |
| XM_006724667.2:c.568G>A | XP_006724730.1:p.Val190Ile | |
| XM_006724668.2:c.847G>A | XP_006724731.1:p.Val283Ile | |
| XR_938400.1:n.1115G>A | ||
| NM_000489.5:c.847G>A | NP_000480.3:p.Val283Ile | |
| XM_005262153.5:c.844G>A | XP_005262210.2:p.Val282Ile | |
| XM_005262154.5:c.847G>A | XP_005262211.2:p.Val283Ile | |
| XM_005262155.4:c.730G>A | XP_005262212.2:p.Val244Ile | |
| XM_005262156.4:c.682G>A | XP_005262213.2:p.Val228Ile | |
| XM_005262157.5:c.730G>A | XP_005262214.2:p.Val244Ile | |
| XM_006724666.4:c.730G>A | XP_006724729.1:p.Val244Ile | |
| XM_006724667.3:c.568G>A | XP_006724730.1:p.Val190Ile | |
| XM_006724668.3:c.847G>A | XP_006724731.1:p.Val283Ile | |
| XM_017029601.2:c.844G>A | XP_016885090.1:p.Val282Ile | |
| XM_017029602.1:c.727G>A | XP_016885091.1:p.Val243Ile | |
| XM_017029603.1:c.679G>A | XP_016885092.1:p.Val227Ile | |
| XM_017029604.2:c.733G>A | XP_016885093.1:p.Val245Ile | |
| XM_017029605.1:c.730G>A | XP_016885094.1:p.Val244Ile | |
| XM_017029606.2:c.616G>A | XP_016885095.1:p.Val206Ile | |
| XM_017029607.2:c.613G>A | XP_016885096.1:p.Val205Ile | |
| XM_017029608.2:c.565G>A | XP_016885097.1:p.Val189Ile | |
| XM_017029609.1:c.616G>A | XP_016885098.1:p.Val206Ile | |
| XM_017029610.1:c.613G>A | XP_016885099.1:p.Val205Ile | |
| XM_017029611.1:c.568G>A | XP_016885100.1:p.Val190Ile | |
| XR_001755700.2:n.1072G>A | ||
| NM_138270.4:c.733G>A | NP_612114.2:p.Val245Ile | |
| NM_000489.6:c.847G>A MANE Select | NP_000480.3:p.Val283Ile | |
| NM_138270.5:c.733G>A | NP_612114.2:p.Val245Ile |