Linked Data
dbSNP Id:
rs782476235
ExAC:
X:54011691 A / G
gnomAD v2:
X-54011691-A-G
gnomAD v3:
X-53985258-A-G
gnomAD v4:
X-53985258-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53985258A>G , CM000685.2:g.53985258A>G | GRCh38 |
| NC_000023.10:g.54011691A>G , CM000685.1:g.54011691A>G | GRCh37 |
| NC_000023.9:g.54028416A>G | NCBI36 |
| NG_021309.1:g.64879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.1827-31T>C | ENSP00000340051.7:n.1827-31T>C | |
| ENST00000396282.7:c.2130-31T>C | ENSP00000379578.3:n.2130-31T>C | |
| ENST00000686349.1:c.*554T>C | ENSP00000510424.1:n.*554T>C | |
| ENST00000687764.1:c.*1541T>C | ENSP00000509967.1:n.*1541T>C | |
| ENST00000691629.1:n.1494-31T>C | ||
| ENST00000338154.11:c.2130-31T>C MANE Select | ENSP00000338868.6:n.2130-31T>C | |
| ENST00000322659.12:c.2079-31T>C | ENSP00000319473.8:n.2079-31T>C | |
| ENST00000338154.10:c.2130-31T>C | ENSP00000338868.6:n.2130-31T>C | |
| ENST00000338946.10:c.1827-31T>C | ENSP00000340051.6:n.1827-31T>C | |
| ENST00000357988.9:c.2238-31T>C | ENSP00000350676.5:n.2238-31T>C | |
| ENST00000396282.6:c.1841-31T>C | ||
| ENST00000443302.5:c.1420-31T>C | ||
| ENST00000615775.4:c.557-31T>C | ENSP00000482159.1:n.557-31T>C | |
| NM_001184896.1:c.2238-31T>C | NP_001171825.1:n.2238-31T>C | |
| NM_001184897.1:c.1827-31T>C | NP_001171826.1:n.1827-31T>C | |
| NM_001184898.1:c.2079-31T>C | NP_001171827.1:n.2079-31T>C | |
| NM_015107.2:c.2130-31T>C | NP_055922.1:n.2130-31T>C | |
| XM_005261996.1:c.2238-31T>C | XP_005262053.1:n.2238-31T>C | |
| XM_005261997.2:c.2130-31T>C | XP_005262054.1:n.2130-31T>C | |
| XM_005261999.1:c.2130-31T>C | XP_005262056.1:n.2130-31T>C | |
| XM_005262000.1:c.1935-31T>C | XP_005262057.1:n.1935-31T>C | |
| XM_006724585.1:c.2238-31T>C | XP_006724648.1:n.2238-31T>C | |
| XM_011530778.1:c.2238-31T>C | XP_011529080.1:n.2238-31T>C | |
| XM_005261997.4:c.2130-31T>C | XP_005262054.1:n.2130-31T>C | |
| XM_017029361.2:c.2130-31T>C | XP_016884850.1:n.2130-31T>C | |
| XM_017029362.2:c.2130-31T>C | XP_016884851.1:n.2130-31T>C | |
| NM_001184898.2:c.2079-31T>C | NP_001171827.1:n.2079-31T>C | |
| NM_015107.3:c.2130-31T>C MANE Select | NP_055922.1:n.2130-31T>C | |
| NM_001184897.2:c.1827-31T>C | NP_001171826.1:n.1827-31T>C |