Linked Data
dbSNP Id:
rs10403955
gnomAD v2:
19-41509438-T-G
gnomAD v3:
19-41003533-T-G
gnomAD v4:
19-41003533-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41003533T>G , CM000681.2:g.41003533T>G | GRCh38 |
| NC_000019.9:g.41509438T>G , CM000681.1:g.41509438T>G | GRCh37 |
| NC_000019.8:g.46201278T>G | NCBI36 |
| NG_007929.1:g.17235T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.172-468T>G MANE Select | ENSP00000324648.2:n.172-468T>G | |
| ENST00000598834.2:c.74-468T>G | ||
| ENST00000324071.8:c.172-468T>G | ENSP00000324648.2:n.172-468T>G | |
| ENST00000598834.1:n.74-468T>G | ||
| NM_000767.4:c.172-468T>G | NP_000758.1:n.172-468T>G | |
| XM_005258569.3:c.172-468T>G | XP_005258626.1:n.172-468T>G | |
| XM_006723050.2:c.172-468T>G | XP_006723113.1:n.172-468T>G | |
| XM_011526546.1:c.172-468T>G | XP_011524848.1:n.172-468T>G | |
| XM_011526547.1:c.172-468T>G | XP_011524849.1:n.172-468T>G | |
| XM_011526548.1:c.172-468T>G | XP_011524850.1:n.172-468T>G | |
| NM_000767.5:c.172-468T>G MANE Select | NP_000758.1:n.172-468T>G |