Linked Data
ClinVar Variation Id:
390047
dbSNP Id:
rs764629897
ExAC:
X:31676267 G / T
gnomAD v2:
X-31676267-G-T
gnomAD v4:
X-31658150-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31658150G>T , CM000685.2:g.31658150G>T | GRCh38 |
| NC_000023.10:g.31676267G>T , CM000685.1:g.31676267G>T | GRCh37 |
| NC_000023.9:g.31586188G>T | NCBI36 |
| NG_012232.1:g.1686460C>A , LRG_199:g.1686460C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2719-6C>A | ENSP00000350765.3:n.2719-6C>A | |
| ENST00000682238.1:c.493-6C>A | ENSP00000508124.1:n.493-6C>A | |
| ENST00000683450.1:n.1338-6C>A | ||
| ENST00000683851.1:n.1534-6C>A | ||
| ENST00000683957.1:n.1365-6C>A | ||
| ENST00000684130.1:c.493-6C>A | ENSP00000508037.1:n.493-6C>A | |
| ENST00000357033.9:c.7873-6C>A MANE Select | ENSP00000354923.3:n.7873-6C>A | |
| ENST00000619831.5:c.3841-6C>A | ENSP00000479270.2:n.3841-6C>A | |
| ENST00000620040.5:c.493-6C>A | ENSP00000478150.2:n.493-6C>A | |
| ENST00000680961.1:c.493-6C>A | ENSP00000506386.1:n.493-6C>A | |
| ENST00000681646.1:n.1534-6C>A | ||
| ENST00000357033.8:c.7873-6C>A | ENSP00000354923.3:n.7873-6C>A | |
| ENST00000358062.6:c.961-6C>A | ENSP00000350765.2:n.961-6C>A | |
| ENST00000359836.5:c.493-6C>A | ENSP00000352894.1:n.493-6C>A | |
| ENST00000378677.6:c.7861-6C>A | ENSP00000367948.2:n.7861-6C>A | |
| ENST00000378707.7:c.493-6C>A | ENSP00000367979.3:n.493-6C>A | |
| ENST00000474231.5:c.493-6C>A | ENSP00000417123.1:n.493-6C>A | |
| ENST00000541735.5:c.493-6C>A | ENSP00000444119.1:n.493-6C>A | |
| ENST00000619831.4:c.7858-6C>A | ENSP00000479270.1:n.7858-6C>A | |
| ENST00000620040.4:c.7870-6C>A | ENSP00000478150.1:n.7870-6C>A | |
| NM_000109.3:c.7849-6C>A | NP_000100.2:n.7849-6C>A | |
| NM_004006.2:c.7873-6C>A , LRG_199t1:c.7873-6C>A | NP_003997.1:n.7873-6C>A | |
| NM_004009.3:c.7861-6C>A | NP_004000.1:n.7861-6C>A | |
| NM_004010.3:c.7504-6C>A | NP_004001.1:n.7504-6C>A | |
| NM_004011.3:c.3850-6C>A | NP_004002.2:n.3850-6C>A | |
| NM_004012.3:c.3841-6C>A | NP_004003.1:n.3841-6C>A | |
| NM_004013.2:c.493-6C>A | NP_004004.1:n.493-6C>A | |
| NM_004020.3:c.493-6C>A | NP_004011.2:n.493-6C>A | |
| NM_004021.2:c.493-6C>A | NP_004012.1:n.493-6C>A | |
| NM_004022.2:c.493-6C>A | NP_004013.1:n.493-6C>A | |
| NM_004023.2:c.493-6C>A | NP_004014.1:n.493-6C>A | |
| XM_006724468.2:c.7873-6C>A | XP_006724531.1:n.7873-6C>A | |
| XM_006724469.2:c.7849-6C>A | XP_006724532.1:n.7849-6C>A | |
| XM_006724470.2:c.7873-6C>A | XP_006724533.1:n.7873-6C>A | |
| XM_006724471.2:c.7873-6C>A | XP_006724534.1:n.7873-6C>A | |
| XM_006724472.2:c.7744-6C>A | XP_006724535.1:n.7744-6C>A | |
| XM_006724473.2:c.7735-6C>A | XP_006724536.1:n.7735-6C>A | |
| XM_006724474.2:c.7873-6C>A | XP_006724537.1:n.7873-6C>A | |
| XM_006724475.2:c.7873-6C>A | XP_006724538.1:n.7873-6C>A | |
| XM_011545467.1:c.7750-6C>A | XP_011543769.1:n.7750-6C>A | |
| XM_011545468.1:c.7873-6C>A | XP_011543770.1:n.7873-6C>A | |
| XM_006724469.3:c.7849-6C>A | XP_006724532.1:n.7849-6C>A | |
| XM_006724470.3:c.7873-6C>A | XP_006724533.1:n.7873-6C>A | |
| XM_006724474.3:c.7873-6C>A | XP_006724537.1:n.7873-6C>A | |
| XM_011545468.2:c.7873-6C>A | XP_011543770.1:n.7873-6C>A | |
| XM_017029328.1:c.7873-6C>A | XP_016884817.1:n.7873-6C>A | |
| XM_017029331.1:c.2047-6C>A | XP_016884820.1:n.2047-6C>A | |
| NM_000109.4:c.7849-6C>A | NP_000100.3:n.7849-6C>A | |
| NM_004006.3:c.7873-6C>A MANE Select | NP_003997.2:n.7873-6C>A | |
| NM_004011.4:c.3850-6C>A | NP_004002.3:n.3850-6C>A | |
| NM_004012.4:c.3841-6C>A | NP_004003.2:n.3841-6C>A | |
| NM_004021.3:c.493-6C>A | NP_004012.2:n.493-6C>A | |
| NM_004023.3:c.493-6C>A | NP_004014.2:n.493-6C>A | |
| NM_004013.3:c.493-6C>A | NP_004004.2:n.493-6C>A | |
| NM_004020.4:c.493-6C>A | NP_004011.3:n.493-6C>A | |
| NM_004022.3:c.493-6C>A | NP_004013.2:n.493-6C>A |