Linked Data
ClinVar Variation Id:
1255049
ClinVar RCV Id:
RCV001659232
dbSNP Id:
rs10204525
gnomAD v2:
2-242792321-C-T
gnomAD v3:
2-241850169-C-T
gnomAD v4:
2-241850169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241850169C>T , CM000664.2:g.241850169C>T | GRCh38 |
| NC_000002.11:g.242792321C>T , CM000664.1:g.242792321C>T | GRCh37 |
| NC_000002.10:g.242440994C>T | NCBI36 |
| NG_012110.1:g.13738G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334409.10:c.*889G>A MANE Select | ENSP00000335062.5:n.*889G>A | |
| ENST00000334409.9:c.*889G>A | ENSP00000335062.5:n.*889G>A | |
| NM_005018.2:c.*889G>A | NP_005009.2:n.*889G>A | |
| XM_017004293.1:c.*889G>A | XP_016859782.1:n.*889G>A | |
| NM_005018.3:c.*889G>A MANE Select | NP_005009.2:n.*889G>A |