Linked Data
dbSNP Id:
rs1197294161
gnomAD v2:
6-45515242-A-G
gnomAD v3:
6-45547505-A-G
gnomAD v4:
6-45547505-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547505A>G , CM000668.2:g.45547505A>G | GRCh38 |
| NC_000006.11:g.45515242A>G , CM000668.1:g.45515242A>G | GRCh37 |
| NC_000006.10:g.45623220A>G | NCBI36 |
| NG_008020.1:g.224189A>G | |
| NG_008020.2:g.224189A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*923A>G | ENSP00000496517.1:n.*923A>G | |
| ENST00000647337.2:c.*200A>G MANE Select | ENSP00000495497.1:n.*200A>G | |
| ENST00000359524.7:c.*200A>G | ENSP00000352514.5:n.*200A>G | |
| ENST00000371432.7:c.*200A>G | ENSP00000360486.4:n.*200A>G | |
| ENST00000371438.5:c.*200A>G | ENSP00000360493.1:n.*200A>G | |
| ENST00000478660.6:c.*178+33852A>G | ENSP00000460188.1:n.*178+33852A>G | |
| ENST00000576263.5:c.1021+35098A>G | ENSP00000458178.1:n.1021+35098A>G | |
| NM_001015051.3:c.*200A>G | NP_001015051.3:n.*200A>G | |
| NM_001024630.3:c.*200A>G | NP_001019801.3:n.*200A>G | |
| NM_001278478.1:c.1658A>G | NP_001265407.1:n.1658A>G | |
| XM_006715232.1:c.*200A>G | XP_006715295.1:n.*200A>G | |
| XM_011514960.1:c.1225+35098A>G | XP_011513262.1:n.1225+35098A>G | |
| XM_011514961.1:c.*200A>G | XP_011513263.1:n.*200A>G | |
| XM_011514962.1:c.*200A>G | XP_011513264.1:n.*200A>G | |
| XM_011514963.1:c.1051+35098A>G | XP_011513265.1:n.1051+35098A>G | |
| XM_011514964.1:c.1435+535A>G | XP_011513266.1:n.1435+535A>G | |
| XM_011514966.1:c.553+35098A>G | XP_011513268.1:n.553+35098A>G | |
| NM_001024630.4:c.*200A>G MANE Select | NP_001019801.3:n.*200A>G | |
| NM_001278478.2:c.*200A>G | NP_001265407.1:n.*200A>G | |
| NM_001369405.1:c.*200A>G | NP_001356334.1:n.*200A>G | |
| NM_001015051.4:c.*200A>G | NP_001015051.3:n.*200A>G |