Linked Data
dbSNP Id:
rs1418954356
gnomAD v2:
X-66941465-G-T
gnomAD v3:
X-67721623-G-T
gnomAD v4:
X-67721623-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67721623G>T , CM000685.2:g.67721623G>T | GRCh38 |
| NC_000023.10:g.66941465G>T , CM000685.1:g.66941465G>T | GRCh37 |
| NC_000023.9:g.66858190G>T | NCBI36 |
| NG_009014.2:g.182592G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*667-210G>T | ENSP00000379358.4:n.*667-210G>T | |
| ENST00000374690.9:c.2319-210G>T MANE Select | ENSP00000363822.3:n.2319-210G>T | |
| ENST00000396043.3:c.946-210G>T | ENSP00000379358.3:n.946-210G>T | |
| ENST00000396044.8:c.2174-2063G>T | ENSP00000379359.3:n.2174-2063G>T | |
| ENST00000612452.5:c.2319-210G>T | ENSP00000484033.2:n.2319-210G>T | |
| ENST00000374690.7:c.2319-210G>T | ENSP00000363822.3:n.2319-210G>T | |
| ENST00000396043.2:c.723-210G>T | ENSP00000379358.2:n.723-210G>T | |
| ENST00000396044.7:c.2174-2063G>T | ENSP00000379359.3:n.2174-2063G>T | |
| ENST00000612452.4:c.1749-210G>T | ENSP00000484033.1:n.1749-210G>T | |
| NM_000044.3:c.2319-210G>T | NP_000035.2:n.2319-210G>T | |
| NM_001011645.2:c.723-210G>T | NP_001011645.1:n.723-210G>T | |
| NM_000044.4:c.2319-210G>T | NP_000035.2:n.2319-210G>T | |
| NM_001011645.3:c.723-210G>T | NP_001011645.1:n.723-210G>T | |
| NM_000044.6:c.2319-210G>T MANE Select | NP_000035.2:n.2319-210G>T |