Linked Data
dbSNP Id:
rs987684588
gnomAD v2:
6-136442605-T-C
gnomAD v3:
6-136121467-T-C
gnomAD v4:
6-136121467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136121467T>C , CM000668.2:g.136121467T>C | GRCh38 |
| NC_000006.11:g.136442605T>C , CM000668.1:g.136442605T>C | GRCh37 |
| NC_000006.10:g.136484298T>C | NCBI36 |
| NG_011994.1:g.274772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308191.11:c.166+12653T>C MANE Select | ENSP00000310661.6:n.166+12653T>C | |
| ENST00000308191.10:c.166+12653T>C | ENSP00000310661.6:n.166+12653T>C | |
| ENST00000615259.4:c.322+12653T>C | ENSP00000482117.1:n.322+12653T>C | |
| NM_018945.3:c.166+12653T>C | NP_061818.1:n.166+12653T>C | |
| XM_005266931.2:c.322+12653T>C | XP_005266988.1:n.322+12653T>C | |
| XM_011535755.1:c.283+12653T>C | XP_011534057.1:n.283+12653T>C | |
| NM_018945.4:c.166+12653T>C MANE Select | NP_061818.1:n.166+12653T>C |