Linked Data
dbSNP Id:
rs995030
gnomAD v2:
12-88890671-A-G
gnomAD v3:
12-88496894-A-G
gnomAD v4:
12-88496894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88496894A>G , CM000674.2:g.88496894A>G | GRCh38 |
| NC_000012.11:g.88890671A>G , CM000674.1:g.88890671A>G | GRCh37 |
| NC_000012.10:g.87414802A>G | NCBI36 |
| NG_012098.1:g.88568T>C | |
| NG_012098.2:g.88568T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347404.10:c.*325T>C | ENSP00000054216.5:n.*325T>C | |
| ENST00000644744.1:c.*325T>C MANE Select | ENSP00000495951.1:n.*325T>C | |
| ENST00000646633.1:c.*1148T>C | ENSP00000494139.1:n.*1148T>C | |
| ENST00000228280.9:c.*325T>C | ENSP00000228280.5:n.*325T>C | |
| ENST00000347404.9:c.*325T>C | ENSP00000054216.5:n.*325T>C | |
| ENST00000378535.4:n.1090T>C | ||
| NM_000899.4:c.*325T>C | NP_000890.1:n.*325T>C | |
| NM_003994.5:c.*325T>C | NP_003985.2:n.*325T>C | |
| NM_000899.5:c.*325T>C MANE Select | NP_000890.1:n.*325T>C | |
| NM_003994.6:c.*325T>C | NP_003985.2:n.*325T>C |