Linked Data
ClinVar Variation Id:
128496
dbSNP Id:
rs149232501
ExAC:
X:76937942 C / G
gnomAD v2:
X-76937942-C-G
gnomAD v3:
X-77682450-C-G
gnomAD v4:
X-77682450-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682450C>G , CM000685.2:g.77682450C>G | GRCh38 |
| NC_000023.10:g.76937942C>G , CM000685.1:g.76937942C>G | GRCh37 |
| NC_000023.9:g.76824598C>G | NCBI36 |
| NG_008838.2:g.108772G>C | |
| NG_008838.3:g.108820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2806G>C MANE Select | ENSP00000362441.4:p.Val936Leu | |
| ENST00000373344.9:c.2806G>C | ENSP00000362441.4:p.Val936Leu | |
| ENST00000395603.7:c.2692G>C | ENSP00000378967.3:p.Val898Leu | |
| ENST00000480283.5:c.*2434G>C | ENSP00000480196.1:n.*2434G>C | |
| ENST00000624032.3:c.2719G>C | ENSP00000485253.1:p.Val907Leu | |
| ENST00000624166.3:c.2602G>C | ENSP00000485103.1:p.Val868Leu | |
| NM_000489.4:c.2806G>C | NP_000480.3:p.Val936Leu | |
| NM_138270.3:c.2692G>C | NP_612114.2:p.Val898Leu | |
| XM_005262153.3:c.2803G>C | XP_005262210.2:p.Val935Leu | |
| XM_005262154.3:c.2719G>C | XP_005262211.2:p.Val907Leu | |
| XM_005262155.3:c.2689G>C | XP_005262212.2:p.Val897Leu | |
| XM_005262156.3:c.2641G>C | XP_005262213.2:p.Val881Leu | |
| XM_005262157.3:c.2602G>C | XP_005262214.2:p.Val868Leu | |
| XM_006724666.2:c.2689G>C | XP_006724729.1:p.Val897Leu | |
| XM_006724667.2:c.2527G>C | XP_006724730.1:p.Val843Leu | |
| XM_006724668.2:c.2806G>C | XP_006724731.1:p.Val936Leu | |
| XR_938400.1:n.3074G>C | ||
| NM_000489.5:c.2806G>C | NP_000480.3:p.Val936Leu | |
| XM_005262153.5:c.2803G>C | XP_005262210.2:p.Val935Leu | |
| XM_005262154.5:c.2719G>C | XP_005262211.2:p.Val907Leu | |
| XM_005262155.4:c.2689G>C | XP_005262212.2:p.Val897Leu | |
| XM_005262156.4:c.2641G>C | XP_005262213.2:p.Val881Leu | |
| XM_005262157.5:c.2602G>C | XP_005262214.2:p.Val868Leu | |
| XM_006724666.4:c.2689G>C | XP_006724729.1:p.Val897Leu | |
| XM_006724667.3:c.2527G>C | XP_006724730.1:p.Val843Leu | |
| XM_006724668.3:c.2806G>C | XP_006724731.1:p.Val936Leu | |
| XM_017029601.2:c.2716G>C | XP_016885090.1:p.Val906Leu | |
| XM_017029602.1:c.2686G>C | XP_016885091.1:p.Val896Leu | |
| XM_017029603.1:c.2638G>C | XP_016885092.1:p.Val880Leu | |
| XM_017029604.2:c.2605G>C | XP_016885093.1:p.Val869Leu | |
| XM_017029605.1:c.2602G>C | XP_016885094.1:p.Val868Leu | |
| XM_017029606.2:c.2575G>C | XP_016885095.1:p.Val859Leu | |
| XM_017029607.2:c.2572G>C | XP_016885096.1:p.Val858Leu | |
| XM_017029608.2:c.2524G>C | XP_016885097.1:p.Val842Leu | |
| XM_017029609.1:c.2488G>C | XP_016885098.1:p.Val830Leu | |
| XM_017029610.1:c.2485G>C | XP_016885099.1:p.Val829Leu | |
| XM_017029611.1:c.2440G>C | XP_016885100.1:p.Val814Leu | |
| XR_001755700.2:n.3031G>C | ||
| NM_138270.4:c.2692G>C | NP_612114.2:p.Val898Leu | |
| NM_000489.6:c.2806G>C MANE Select | NP_000480.3:p.Val936Leu | |
| NM_138270.5:c.2692G>C | NP_612114.2:p.Val898Leu |