Linked Data
dbSNP Id:
rs1258644123
gnomAD v2:
6-96660051-G-T
gnomAD v3:
6-96212175-G-T
gnomAD v4:
6-96212175-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96212175G>T , CM000668.2:g.96212175G>T | GRCh38 |
| NC_000006.11:g.96660051G>T , CM000668.1:g.96660051G>T | GRCh37 |
| NC_000006.10:g.96766772G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302103.6:c.*7940G>T MANE Select | ENSP00000302599.4:n.*7940G>T | |
| ENST00000302103.5:c.*7940G>T | ENSP00000302599.4:n.*7940G>T | |
| NM_006581.3:c.*7940G>T | NP_006572.2:n.*7940G>T | |
| XR_942796.1:n.411-9160C>A | ||
| XR_942797.1:n.218-9160C>A | ||
| XR_942798.1:n.224-9160C>A | ||
| XR_942799.1:n.232-9160C>A | ||
| XR_942800.1:n.573-9160C>A | ||
| XM_011535383.2:c.*7940G>T | XP_011533685.1:n.*7940G>T | |
| XM_011535385.2:c.*7940G>T | XP_011533687.1:n.*7940G>T | |
| XM_017010188.1:c.*7940G>T | XP_016865677.1:n.*7940G>T | |
| XM_017010190.1:c.*7940G>T | XP_016865679.1:n.*7940G>T | |
| NM_006581.4:c.*7940G>T MANE Select | NP_006572.2:n.*7940G>T |