Linked Data
dbSNP Id:
rs777953664
ExAC:
19:41518662 C / G
gnomAD v2:
19-41518662-C-G
gnomAD v3:
19-41012757-C-G
gnomAD v4:
19-41012757-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012757C>G , CM000681.2:g.41012757C>G | GRCh38 |
| NC_000019.9:g.41518662C>G , CM000681.1:g.41518662C>G | GRCh37 |
| NC_000019.8:g.46210502C>G | NCBI36 |
| NG_007929.1:g.26459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1236C>G MANE Select | ENSP00000324648.2:p.His412Gln | |
| ENST00000598834.2:c.1177-216C>G | ||
| ENST00000324071.8:c.1236C>G | ENSP00000324648.2:p.His412Gln | |
| ENST00000593831.1:c.528C>G | ENSP00000470582.1:p.His176Gln | |
| ENST00000597612.1:n.647+272C>G | ||
| NM_000767.4:c.1236C>G | NP_000758.1:p.His412Gln | |
| XM_005258569.3:c.1152+272C>G | XP_005258626.1:n.1152+272C>G | |
| XM_006723050.2:c.1236C>G | XP_006723113.1:p.His412Gln | |
| XM_011526546.1:c.1153-59C>G | XP_011524848.1:n.1153-59C>G | |
| XM_011526547.1:c.1153-216C>G | XP_011524849.1:n.1153-216C>G | |
| XM_011526548.1:c.756C>G | XP_011524850.1:p.His252Gln | |
| XM_011526549.1:c.645C>G | XP_011524851.1:p.His215Gln | |
| XM_011526550.1:c.636C>G | XP_011524852.1:p.His212Gln | |
| NM_000767.5:c.1236C>G MANE Select | NP_000758.1:p.His412Gln |