Linked Data
dbSNP Id:
rs1313525119
gnomAD v2:
8-17461422-T-C
gnomAD v3:
8-17603913-T-C
gnomAD v4:
8-17603913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17603913T>C , CM000670.2:g.17603913T>C | GRCh38 |
| NC_000008.10:g.17461422T>C , CM000670.1:g.17461422T>C | GRCh37 |
| NC_000008.9:g.17505699T>C | NCBI36 |
| NG_023332.1:g.32481T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251630.11:c.353+14148T>C MANE Select | ENSP00000251630.4:n.353+14148T>C | |
| ENST00000673645.1:c.353+14148T>C | ENSP00000501219.1:n.353+14148T>C | |
| ENST00000251630.10:c.353+14148T>C | ENSP00000251630.4:n.353+14148T>C | |
| ENST00000541323.1:c.353+14148T>C | ENSP00000444211.1:n.353+14148T>C | |
| NM_006207.2:c.353+14148T>C | NP_006198.1:n.353+14148T>C | |
| XM_011544558.1:c.353+14148T>C | XP_011542860.1:n.353+14148T>C | |
| NM_001372073.1:c.353+14148T>C MANE Select | NP_001359002.1:n.353+14148T>C |