Linked Data
ClinVar Variation Id:
281961
dbSNP Id:
rs373230021
ExAC:
X:31792316 T / C
gnomAD v2:
X-31792316-T-C
gnomAD v3:
X-31774199-T-C
gnomAD v4:
X-31774199-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31774199T>C , CM000685.2:g.31774199T>C | GRCh38 |
| NC_000023.10:g.31792316T>C , CM000685.1:g.31792316T>C | GRCh37 |
| NC_000023.9:g.31702237T>C | NCBI36 |
| NG_012232.1:g.1570411A>G , LRG_199:g.1570411A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2156-7A>G | ENSP00000350765.3:n.2156-7A>G | |
| ENST00000682238.1:c.-71-7A>G | ENSP00000508124.1:n.-71-7A>G | |
| ENST00000683117.1:n.971-7A>G | ||
| ENST00000683450.1:n.893-7A>G | ||
| ENST00000683851.1:n.971-7A>G | ||
| ENST00000683957.1:n.802-7A>G | ||
| ENST00000684130.1:c.-71-7A>G | ENSP00000508037.1:n.-71-7A>G | |
| ENST00000357033.9:c.7310-7A>G MANE Select | ENSP00000354923.3:n.7310-7A>G | |
| ENST00000619831.5:c.3278-7A>G | ENSP00000479270.2:n.3278-7A>G | |
| ENST00000620040.5:c.-71-7A>G | ENSP00000478150.2:n.-71-7A>G | |
| ENST00000680961.1:c.-71-7A>G | ENSP00000506386.1:n.-71-7A>G | |
| ENST00000681646.1:n.971-7A>G | ||
| ENST00000681839.1:c.299-7A>G | ENSP00000505228.1:n.299-7A>G | |
| ENST00000357033.8:c.7310-7A>G | ENSP00000354923.3:n.7310-7A>G | |
| ENST00000358062.6:c.398-7A>G | ENSP00000350765.2:n.398-7A>G | |
| ENST00000359836.5:c.-71-7A>G | ENSP00000352894.1:n.-71-7A>G | |
| ENST00000378677.6:c.7298-7A>G | ENSP00000367948.2:n.7298-7A>G | |
| ENST00000378707.7:c.-71-7A>G | ENSP00000367979.3:n.-71-7A>G | |
| ENST00000471779.1:c.67-7A>G | ENSP00000417075.1:n.67-7A>G | |
| ENST00000474231.5:c.-71-7A>G | ENSP00000417123.1:n.-71-7A>G | |
| ENST00000541735.5:c.-71-7A>G | ENSP00000444119.1:n.-71-7A>G | |
| ENST00000619831.4:c.7295-7A>G | ENSP00000479270.1:n.7295-7A>G | |
| ENST00000620040.4:c.7307-7A>G | ENSP00000478150.1:n.7307-7A>G | |
| NM_000109.3:c.7286-7A>G | NP_000100.2:n.7286-7A>G | |
| NM_004006.2:c.7310-7A>G , LRG_199t1:c.7310-7A>G | NP_003997.1:n.7310-7A>G | |
| NM_004009.3:c.7298-7A>G | NP_004000.1:n.7298-7A>G | |
| NM_004010.3:c.6941-7A>G | NP_004001.1:n.6941-7A>G | |
| NM_004011.3:c.3287-7A>G | NP_004002.2:n.3287-7A>G | |
| NM_004012.3:c.3278-7A>G | NP_004003.1:n.3278-7A>G | |
| NM_004013.2:c.-71-7A>G | NP_004004.1:n.-71-7A>G | |
| NM_004020.3:c.-71-7A>G | NP_004011.2:n.-71-7A>G | |
| NM_004021.2:c.-71-7A>G | NP_004012.1:n.-71-7A>G | |
| NM_004022.2:c.-71-7A>G | NP_004013.1:n.-71-7A>G | |
| NM_004023.2:c.-71-7A>G | NP_004014.1:n.-71-7A>G | |
| XM_006724468.2:c.7310-7A>G | XP_006724531.1:n.7310-7A>G | |
| XM_006724469.2:c.7286-7A>G | XP_006724532.1:n.7286-7A>G | |
| XM_006724470.2:c.7310-7A>G | XP_006724533.1:n.7310-7A>G | |
| XM_006724471.2:c.7310-7A>G | XP_006724534.1:n.7310-7A>G | |
| XM_006724472.2:c.7181-7A>G | XP_006724535.1:n.7181-7A>G | |
| XM_006724473.2:c.7172-7A>G | XP_006724536.1:n.7172-7A>G | |
| XM_006724474.2:c.7310-7A>G | XP_006724537.1:n.7310-7A>G | |
| XM_006724475.2:c.7310-7A>G | XP_006724538.1:n.7310-7A>G | |
| XM_011545467.1:c.7187-7A>G | XP_011543769.1:n.7187-7A>G | |
| XM_011545468.1:c.7310-7A>G | XP_011543770.1:n.7310-7A>G | |
| XM_006724469.3:c.7286-7A>G | XP_006724532.1:n.7286-7A>G | |
| XM_006724470.3:c.7310-7A>G | XP_006724533.1:n.7310-7A>G | |
| XM_006724474.3:c.7310-7A>G | XP_006724537.1:n.7310-7A>G | |
| XM_011545468.2:c.7310-7A>G | XP_011543770.1:n.7310-7A>G | |
| XM_017029328.1:c.7310-7A>G | XP_016884817.1:n.7310-7A>G | |
| XM_017029331.1:c.1484-7A>G | XP_016884820.1:n.1484-7A>G | |
| NM_000109.4:c.7286-7A>G | NP_000100.3:n.7286-7A>G | |
| NM_004006.3:c.7310-7A>G MANE Select | NP_003997.2:n.7310-7A>G | |
| NM_004011.4:c.3287-7A>G | NP_004002.3:n.3287-7A>G | |
| NM_004012.4:c.3278-7A>G | NP_004003.2:n.3278-7A>G | |
| NM_004021.3:c.-71-7A>G | NP_004012.2:n.-71-7A>G | |
| NM_004023.3:c.-71-7A>G | NP_004014.2:n.-71-7A>G | |
| NM_004013.3:c.-71-7A>G | NP_004004.2:n.-71-7A>G | |
| NM_004020.4:c.-71-7A>G | NP_004011.3:n.-71-7A>G | |
| NM_004022.3:c.-71-7A>G | NP_004013.2:n.-71-7A>G |