Linked Data
dbSNP Id:
rs752977601
ExAC:
X:65824865 G / C
gnomAD v2:
X-65824865-G-C
gnomAD v3:
X-66605023-G-C
gnomAD v4:
X-66605023-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.66605023G>C , CM000685.2:g.66605023G>C | GRCh38 |
| NC_000023.10:g.65824865G>C , CM000685.1:g.65824865G>C | GRCh37 |
| NC_000023.9:g.65741590G>C | NCBI36 |
| NG_013271.2:g.39244C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374719.8:c.266+25C>G MANE Select | ENSP00000363851.3:n.266+25C>G | |
| ENST00000253392.5:c.266+25C>G | ENSP00000253392.5:n.266+25C>G | |
| ENST00000374719.7:c.266+25C>G | ENSP00000363851.3:n.266+25C>G | |
| ENST00000396050.5:c.266+25C>G | ENSP00000379365.2:n.266+25C>G | |
| ENST00000451436.6:c.266+25C>G | ENSP00000415242.3:n.266+25C>G | |
| NM_001199687.2:c.266+25C>G | NP_001186616.1:n.266+25C>G | |
| NM_001242310.1:c.266+25C>G | NP_001229239.1:n.266+25C>G | |
| NM_021783.3:c.266+25C>G | NP_068555.1:n.266+25C>G | |
| XM_005262285.2:c.72-2226C>G | XP_005262342.1:n.72-2226C>G | |
| XM_006724675.2:c.266+25C>G | XP_006724738.1:n.266+25C>G | |
| XM_011531000.1:c.266+25C>G | XP_011529302.1:n.266+25C>G | |
| XM_011531001.1:c.266+25C>G | XP_011529303.1:n.266+25C>G | |
| XM_011531002.1:c.266+25C>G | XP_011529304.1:n.266+25C>G | |
| XM_011531003.1:c.266+25C>G | XP_011529305.1:n.266+25C>G | |
| XM_011531004.1:c.266+25C>G | XP_011529306.1:n.266+25C>G | |
| XM_011531005.1:c.72-2226C>G | XP_011529307.1:n.72-2226C>G | |
| XM_011531006.1:c.266+25C>G | XP_011529308.1:n.266+25C>G | |
| XM_011531007.1:c.266+25C>G | XP_011529309.1:n.266+25C>G | |
| XR_244499.2:n.376+25C>G | ||
| XR_938404.1:n.326+25C>G | ||
| XR_938405.1:n.376+25C>G | ||
| XR_938406.1:n.371+25C>G | ||
| NM_001324199.1:c.72-2226C>G | NP_001311128.1:n.72-2226C>G | |
| NM_001324201.1:c.250+25C>G | NP_001311130.1:n.250+25C>G | |
| NM_001324202.1:c.72-2226C>G | NP_001311131.1:n.72-2226C>G | |
| NM_001324204.1:c.56-2226C>G | NP_001311133.1:n.56-2226C>G | |
| NM_001324205.1:c.56-2226C>G | NP_001311134.1:n.56-2226C>G | |
| NM_001324206.1:c.266+25C>G | NP_001311135.1:n.266+25C>G | |
| NM_021783.4:c.266+25C>G | NP_068555.1:n.266+25C>G | |
| NR_136726.1:n.374+25C>G | ||
| NR_136727.1:n.376+25C>G | ||
| XM_011531003.2:c.266+25C>G | XP_011529305.1:n.266+25C>G | |
| XM_011531005.2:c.72-2226C>G | XP_011529307.1:n.72-2226C>G | |
| XM_011531006.2:c.266+25C>G | XP_011529308.1:n.266+25C>G | |
| XM_011531007.2:c.266+25C>G | XP_011529309.1:n.266+25C>G | |
| XM_017029703.1:c.250+25C>G | XP_016885192.1:n.250+25C>G | |
| XM_017029704.1:c.266+25C>G | XP_016885193.1:n.266+25C>G | |
| XM_017029705.1:c.56-2226C>G | XP_016885194.1:n.56-2226C>G | |
| XM_017029706.1:c.266+25C>G | XP_016885195.1:n.266+25C>G | |
| XM_017029707.1:c.72-2226C>G | XP_016885196.1:n.72-2226C>G | |
| XM_017029708.1:c.72-2226C>G | XP_016885197.1:n.72-2226C>G | |
| XR_938405.2:n.366+25C>G | ||
| NM_021783.5:c.266+25C>G MANE Select | NP_068555.2:n.266+25C>G | |
| NM_001324199.2:c.72-2226C>G | NP_001311128.2:n.72-2226C>G | |
| NM_001324201.2:c.250+25C>G | NP_001311130.2:n.250+25C>G | |
| NM_001324202.2:c.72-2226C>G | NP_001311131.2:n.72-2226C>G | |
| NM_001324204.2:c.56-2226C>G | NP_001311133.2:n.56-2226C>G | |
| NM_001324205.2:c.56-2226C>G | NP_001311134.2:n.56-2226C>G | |
| NM_001324206.2:c.266+25C>G | NP_001311135.2:n.266+25C>G | |
| NR_136726.2:n.345+25C>G | ||
| NR_136727.2:n.360+25C>G | ||
| NM_001199687.3:c.266+25C>G | NP_001186616.2:n.266+25C>G |