Linked Data
dbSNP Id:
rs79840416
gnomAD v2:
6-105444115-T-C
gnomAD v3:
6-104996240-T-C
gnomAD v4:
6-104996240-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104996240T>C , CM000668.2:g.104996240T>C | GRCh38 |
| NC_000006.11:g.105444115T>C , CM000668.1:g.105444115T>C | GRCh37 |
| NC_000006.10:g.105550808T>C | NCBI36 |
| NG_032815.1:g.44193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345080.5:c.199-30058T>C MANE Select | ENSP00000344401.4:n.199-30058T>C | |
| ENST00000635857.1:c.256-30058T>C | ENSP00000489735.1:n.256-30058T>C | |
| ENST00000637759.1:c.223-30058T>C | ENSP00000490468.1:n.223-30058T>C | |
| ENST00000345080.4:c.199-30058T>C | ENSP00000344401.4:n.199-30058T>C | |
| NM_001004317.3:c.199-30058T>C | NP_001004317.1:n.199-30058T>C | |
| XM_006715477.2:c.256-30058T>C | XP_006715540.2:n.256-30058T>C | |
| XM_011535818.1:c.223-30058T>C | XP_011534120.1:n.223-30058T>C | |
| XM_011535818.3:c.223-30058T>C | XP_011534120.1:n.223-30058T>C | |
| NM_001004317.4:c.199-30058T>C MANE Select | NP_001004317.1:n.199-30058T>C |