Linked Data
dbSNP Id:
rs2025151
gnomAD v2:
9-99161512-C-G
gnomAD v3:
9-96399230-C-G
gnomAD v4:
9-96399230-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96399230C>G , CM000671.2:g.96399230C>G | GRCh38 |
| NC_000009.11:g.99161512C>G , CM000671.1:g.99161512C>G | GRCh37 |
| NC_000009.10:g.98201333C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375256.5:c.421-916G>C MANE Select | ENSP00000364405.4:n.421-916G>C | |
| ENST00000375256.4:c.421-916G>C | ENSP00000364405.4:n.421-916G>C | |
| NM_153695.3:c.421-916G>C | NP_710162.1:n.421-916G>C | |
| XM_011518345.1:c.421-916G>C | XP_011516647.1:n.421-916G>C | |
| XR_929732.1:n.1936-916G>C | ||
| XR_929733.1:n.1986-916G>C | ||
| XR_929734.1:n.2003-916G>C | ||
| XR_929735.1:n.1480-916G>C | ||
| XM_011518345.3:c.421-916G>C | XP_011516647.1:n.421-916G>C | |
| NM_153695.4:c.421-916G>C MANE Select | NP_710162.1:n.421-916G>C |