Linked Data
dbSNP Id:
rs779633376
ExAC:
10:101596014 A / T
gnomAD v2:
10-101596014-A-T
gnomAD v3:
10-99836257-A-T
gnomAD v4:
10-99836257-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836257A>T , CM000672.2:g.99836257A>T | GRCh38 |
| NC_000010.10:g.101596014A>T , CM000672.1:g.101596014A>T | GRCh37 |
| NC_000010.9:g.101586004A>T | NCBI36 |
| NG_011798.1:g.58552A>T | |
| NG_011798.2:g.58660A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3581A>T MANE Select | ENSP00000497274.1:p.Gln1194Leu | |
| ENST00000370449.8:c.3581A>T | ENSP00000359478.4:p.Gln1194Leu | |
| NM_000392.4:c.3581A>T | NP_000383.1:p.Gln1194Leu | |
| XM_006717630.2:c.2885A>T | XP_006717693.1:p.Gln962Leu | |
| XR_945604.1:n.3770A>T | ||
| XR_945605.1:n.3772A>T | ||
| NM_000392.5:c.3581A>T MANE Select | NP_000383.2:p.Gln1194Leu | |
| XM_006717630.3:c.2885A>T | XP_006717693.1:p.Gln962Leu | |
| XR_945604.3:n.3824A>T | ||
| XR_945605.3:n.3824A>T |