Linked Data
dbSNP Id:
rs1557115637
gnomAD v2:
X-49108257-A-C
gnomAD v3:
X-49251796-A-C
gnomAD v4:
X-49251796-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251796A>C , CM000685.2:g.49251796A>C | GRCh38 |
| NC_000023.10:g.49108257A>C , CM000685.1:g.49108257A>C | GRCh37 |
| NC_000023.9:g.48995201A>C | NCBI36 |
| NG_007392.1:g.18032T>G , LRG_62:g.18032T>G | |
| NG_021311.2:g.21332A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.940-31T>G | ENSP00000365372.2:n.940-31T>G | |
| ENST00000376207.10:c.1045-31T>G MANE Select | ENSP00000365380.4:n.1045-31T>G | |
| ENST00000455775.7:c.1114-31T>G | ENSP00000396415.3:n.1114-31T>G | |
| ENST00000518685.6:c.964-31T>G | ENSP00000428952.2:n.964-31T>G | |
| ENST00000557224.6:c.940-31T>G | ENSP00000451208.1:n.940-31T>G | |
| ENST00000651307.1:c.968-31T>G | ENSP00000498454.1:n.968-31T>G | |
| ENST00000376197.1:c.895-31T>G | ENSP00000365369.1:n.895-31T>G | |
| ENST00000376199.6:c.940-31T>G | ENSP00000365372.2:n.940-31T>G | |
| ENST00000376207.8:c.1045-31T>G | ENSP00000365380.4:n.1045-31T>G | |
| ENST00000455775.6:c.1114-31T>G | ENSP00000396415.3:n.1114-31T>G | |
| ENST00000518685.5:c.940-31T>G | ENSP00000428952.1:n.940-31T>G | |
| ENST00000557224.5:c.940-31T>G | ENSP00000451208.1:n.940-31T>G | |
| NM_001114377.1:c.940-31T>G | NP_001107849.1:n.940-31T>G | |
| NM_014009.3:c.1045-31T>G , LRG_62t1:c.1045-31T>G | NP_054728.2:n.1045-31T>G | |
| XM_006724533.2:c.1114-31T>G | XP_006724596.2:n.1114-31T>G | |
| XM_011543915.1:c.1264-31T>G | XP_011542217.1:n.1264-31T>G | |
| XM_011543916.1:c.1264-31T>G | XP_011542218.1:n.1264-31T>G | |
| XM_011543917.1:c.1063-31T>G | XP_011542219.1:n.1063-31T>G | |
| XM_011543918.1:c.1300-31T>G | XP_011542220.1:n.1300-31T>G | |
| XM_011543919.1:c.1264-31T>G | XP_011542221.1:n.1264-31T>G | |
| XM_017029567.1:c.991-31T>G | XP_016885056.1:n.991-31T>G | |
| NM_001114377.2:c.940-31T>G | NP_001107849.1:n.940-31T>G | |
| NM_014009.4:c.1045-31T>G MANE Select | NP_054728.2:n.1045-31T>G |