Linked Data
ClinVar Variation Id:
228595
dbSNP Id:
rs181284440
ExAC:
X:31497186 A / G
gnomAD v2:
X-31497186-A-G
gnomAD v3:
X-31479069-A-G
gnomAD v4:
X-31479069-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31479069A>G , CM000685.2:g.31479069A>G | GRCh38 |
| NC_000023.10:g.31497186A>G , CM000685.1:g.31497186A>G | GRCh37 |
| NC_000023.9:g.31407107A>G | NCBI36 |
| NG_012232.1:g.1865541T>C , LRG_199:g.1865541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3428T>C | ENSP00000350765.3:p.Val1143Ala | |
| ENST00000682238.1:c.1202T>C | ENSP00000508124.1:p.Val401Ala | |
| ENST00000683450.1:n.2047T>C | ||
| ENST00000683957.1:n.2074T>C | ||
| ENST00000684130.1:c.1202T>C | ENSP00000508037.1:p.Val401Ala | |
| ENST00000343523.7:c.437T>C | ENSP00000340057.4:p.Val146Ala | |
| ENST00000357033.9:c.8582T>C MANE Select | ENSP00000354923.3:p.Val2861Ala | |
| ENST00000619831.5:c.4550T>C | ENSP00000479270.2:p.Val1517Ala | |
| ENST00000620040.5:c.1202T>C | ENSP00000478150.2:p.Val401Ala | |
| ENST00000680961.1:c.1202T>C | ENSP00000506386.1:p.Val401Ala | |
| ENST00000681646.1:n.2243T>C | ||
| ENST00000343523.6:c.395T>C | ENSP00000340057.3:p.Val132Ala | |
| ENST00000357033.8:c.8582T>C | ENSP00000354923.3:p.Val2861Ala | |
| ENST00000358062.6:c.1670T>C | ENSP00000350765.2:p.Val557Ala | |
| ENST00000359836.5:c.1202T>C | ENSP00000352894.1:p.Val401Ala | |
| ENST00000378677.6:c.8570T>C | ENSP00000367948.2:p.Val2857Ala | |
| ENST00000378707.7:c.1202T>C | ENSP00000367979.3:p.Val401Ala | |
| ENST00000445312.1:n.639T>C | ||
| ENST00000474231.5:c.1202T>C | ENSP00000417123.1:p.Val401Ala | |
| ENST00000541735.5:c.1202T>C | ENSP00000444119.1:p.Val401Ala | |
| ENST00000619831.4:c.8567T>C | ENSP00000479270.1:p.Val2856Ala | |
| ENST00000620040.4:c.8579T>C | ENSP00000478150.1:p.Val2860Ala | |
| NM_000109.3:c.8558T>C | NP_000100.2:p.Val2853Ala | |
| NM_004006.2:c.8582T>C , LRG_199t1:c.8582T>C | NP_003997.1:p.Val2861Ala | |
| NM_004009.3:c.8570T>C | NP_004000.1:p.Val2857Ala | |
| NM_004010.3:c.8213T>C | NP_004001.1:p.Val2738Ala | |
| NM_004011.3:c.4559T>C | NP_004002.2:p.Val1520Ala | |
| NM_004012.3:c.4550T>C | NP_004003.1:p.Val1517Ala | |
| NM_004013.2:c.1202T>C | NP_004004.1:p.Val401Ala | |
| NM_004014.2:c.395T>C | NP_004005.1:p.Val132Ala | |
| NM_004020.3:c.1202T>C | NP_004011.2:p.Val401Ala | |
| NM_004021.2:c.1202T>C | NP_004012.1:p.Val401Ala | |
| NM_004022.2:c.1202T>C | NP_004013.1:p.Val401Ala | |
| NM_004023.2:c.1202T>C | NP_004014.1:p.Val401Ala | |
| XM_006724468.2:c.8582T>C | XP_006724531.1:p.Val2861Ala | |
| XM_006724469.2:c.8558T>C | XP_006724532.1:p.Val2853Ala | |
| XM_006724470.2:c.8582T>C | XP_006724533.1:p.Val2861Ala | |
| XM_006724471.2:c.8582T>C | XP_006724534.1:p.Val2861Ala | |
| XM_006724472.2:c.8453T>C | XP_006724535.1:p.Val2818Ala | |
| XM_006724473.2:c.8444T>C | XP_006724536.1:p.Val2815Ala | |
| XM_006724474.2:c.8582T>C | XP_006724537.1:p.Val2861Ala | |
| XM_006724475.2:c.8582T>C | XP_006724538.1:p.Val2861Ala | |
| XM_011545467.1:c.8459T>C | XP_011543769.1:p.Val2820Ala | |
| XM_011545468.1:c.8582T>C | XP_011543770.1:p.Val2861Ala | |
| XM_006724469.3:c.8558T>C | XP_006724532.1:p.Val2853Ala | |
| XM_006724470.3:c.8582T>C | XP_006724533.1:p.Val2861Ala | |
| XM_006724474.3:c.8582T>C | XP_006724537.1:p.Val2861Ala | |
| XM_011545468.2:c.8582T>C | XP_011543770.1:p.Val2861Ala | |
| XM_017029328.1:c.8582T>C | XP_016884817.1:p.Val2861Ala | |
| XM_017029331.1:c.2756T>C | XP_016884820.1:p.Val919Ala | |
| NM_000109.4:c.8558T>C | NP_000100.3:p.Val2853Ala | |
| NM_004006.3:c.8582T>C MANE Select | NP_003997.2:p.Val2861Ala | |
| NM_004011.4:c.4559T>C | NP_004002.3:p.Val1520Ala | |
| NM_004012.4:c.4550T>C | NP_004003.2:p.Val1517Ala | |
| NM_004021.3:c.1202T>C | NP_004012.2:p.Val401Ala | |
| NM_004023.3:c.1202T>C | NP_004014.2:p.Val401Ala | |
| NM_004013.3:c.1202T>C | NP_004004.2:p.Val401Ala | |
| NM_004014.3:c.395T>C | NP_004005.2:p.Val132Ala | |
| NM_004020.4:c.1202T>C | NP_004011.3:p.Val401Ala | |
| NM_004022.3:c.1202T>C | NP_004013.2:p.Val401Ala |