Linked Data
dbSNP Id:
rs2899663
gnomAD v2:
15-61194234-A-G
gnomAD v3:
15-60902035-A-G
gnomAD v4:
15-60902035-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60902035A>G , CM000677.2:g.60902035A>G | GRCh38 |
| NC_000015.9:g.61194234A>G , CM000677.1:g.61194234A>G | GRCh37 |
| NC_000015.8:g.58981526A>G | NCBI36 |
| NG_029246.1:g.332269T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.167-223349T>C MANE Select | ENSP00000335087.6:n.167-223349T>C | |
| ENST00000335670.10:c.167-223349T>C | ENSP00000335087.6:n.167-223349T>C | |
| ENST00000551975.5:c.82-223349T>C | ||
| ENST00000557822.5:n.192-223349T>C | ||
| ENST00000559145.1:n.174-223349T>C | ||
| ENST00000561093.1:n.180-223349T>C | ||
| NM_134261.2:c.167-223349T>C | NP_599023.1:n.167-223349T>C | |
| XM_011521876.1:c.34+113763T>C | XP_011520178.1:n.34+113763T>C | |
| XM_011521878.1:c.-327-223349T>C | XP_011520180.1:n.-327-223349T>C | |
| XM_011521878.2:c.-327-223349T>C | XP_011520180.1:n.-327-223349T>C | |
| NM_134261.3:c.167-223349T>C MANE Select | NP_599023.1:n.167-223349T>C |