Linked Data
dbSNP Id:
rs4988300
gnomAD v2:
11-68088831-G-T
gnomAD v3:
11-68321363-G-T
gnomAD v4:
11-68321363-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68321363G>T , CM000673.2:g.68321363G>T | GRCh38 |
| NC_000011.9:g.68088831G>T , CM000673.1:g.68088831G>T | GRCh37 |
| NC_000011.8:g.67845407G>T | NCBI36 |
| NG_015835.1:g.13724G>T | |
| NG_015835.2:g.13724G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.91+8558G>T MANE Select | ENSP00000294304.6:n.91+8558G>T | |
| ENST00000294304.11:c.91+8558G>T | ENSP00000294304.6:n.91+8558G>T | |
| ENST00000529993.5:c.91+8558G>T | ENSP00000436652.1:n.91+8558G>T | |
| NM_001291902.1:c.-1675+8558G>T | NP_001278831.1:n.-1675+8558G>T | |
| NM_002335.3:c.91+8558G>T | NP_002326.2:n.91+8558G>T | |
| XM_005273994.2:c.91+8558G>T | XP_005274051.1:n.91+8558G>T | |
| XM_011545029.1:c.118+22365G>T | XP_011543331.1:n.118+22365G>T | |
| XM_011545030.1:c.118+22365G>T | XP_011543332.1:n.118+22365G>T | |
| XM_011545031.1:c.118+22365G>T | XP_011543333.1:n.118+22365G>T | |
| XR_949925.1:n.133+22365G>T | ||
| XR_949926.1:n.133+22365G>T | ||
| XR_001747874.1:n.133+22365G>T | ||
| XR_949925.2:n.133+22365G>T | ||
| XR_949926.2:n.133+22365G>T | ||
| NM_002335.4:c.91+8558G>T MANE Select | NP_002326.2:n.91+8558G>T | |
| NM_001291902.2:c.-1675+8558G>T | NP_001278831.1:n.-1675+8558G>T |