Linked Data
dbSNP Id:
rs906778341
gnomAD v2:
6-74310238-T-C
gnomAD v3:
6-73600515-T-C
gnomAD v4:
6-73600515-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600515T>C , CM000668.2:g.73600515T>C | GRCh38 |
| NC_000006.11:g.74310238T>C , CM000668.1:g.74310238T>C | GRCh37 |
| NC_000006.10:g.74366959T>C | NCBI36 |
| NG_008272.1:g.58500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1260-74A>G MANE Select | ENSP00000348019.5:n.1260-74A>G | |
| ENST00000355773.5:c.1260-74A>G | ENSP00000348019.5:n.1260-74A>G | |
| NM_012434.4:c.1260-74A>G | NP_036566.1:n.1260-74A>G | |
| XM_005248710.2:c.1209-74A>G | XP_005248767.1:n.1209-74A>G | |
| XM_005248711.1:c.1062-74A>G | XP_005248768.1:n.1062-74A>G | |
| XM_011535750.1:c.1112-74A>G | XP_011534052.1:n.1112-74A>G | |
| NM_012434.5:c.1260-74A>G MANE Select | NP_036566.1:n.1260-74A>G | |
| NM_001382629.1:c.1029-74A>G | NP_001369558.1:n.1029-74A>G | |
| NM_001382630.1:c.1260-5301A>G | NP_001369559.1:n.1260-5301A>G | |
| NM_001382631.1:c.1281-74A>G | NP_001369560.1:n.1281-74A>G | |
| NM_001382632.1:c.1173-74A>G | NP_001369561.1:n.1173-74A>G | |
| NM_001382633.1:c.1260-74A>G | NP_001369562.1:n.1260-74A>G | |
| NM_001382634.1:c.1101-74A>G | NP_001369563.1:n.1101-74A>G | |
| NM_001382635.1:c.1257-74A>G | NP_001369564.1:n.1257-74A>G | |
| NM_001382636.1:c.942-74A>G | NP_001369565.1:n.942-74A>G |