Linked Data
dbSNP Id:
rs1437135
gnomAD v2:
16-69757828-A-G
gnomAD v3:
16-69723925-A-G
gnomAD v4:
16-69723925-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69723925A>G , CM000678.2:g.69723925A>G | GRCh38 |
| NC_000016.9:g.69757828A>G , CM000678.1:g.69757828A>G | GRCh37 |
| NC_000016.8:g.68315329A>G | NCBI36 |
| NG_011504.1:g.7706T>C | |
| NG_011504.2:g.7706T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320623.10:c.7+2508T>C MANE Select | ENSP00000319788.5:n.7+2508T>C | |
| ENST00000320623.9:c.7+2508T>C | ENSP00000319788.5:n.7+2508T>C | |
| ENST00000379046.6:c.7+2508T>C | ENSP00000368334.2:n.7+2508T>C | |
| ENST00000379047.7:c.7+2508T>C | ENSP00000368335.3:n.7+2508T>C | |
| ENST00000439109.6:c.7+2508T>C | ENSP00000398330.2:n.7+2508T>C | |
| ENST00000561500.5:c.7+2508T>C | ENSP00000456282.1:n.7+2508T>C | |
| ENST00000564043.1:c.-57+2576T>C | ENSP00000455020.1:n.-57+2576T>C | |
| ENST00000569118.1:n.93+2508T>C | ||
| NM_000903.2:c.7+2508T>C | NP_000894.1:n.7+2508T>C | |
| NM_001025433.1:c.7+2508T>C | NP_001020604.1:n.7+2508T>C | |
| NM_001025434.1:c.7+2508T>C | NP_001020605.1:n.7+2508T>C | |
| NM_001286137.1:c.7+2508T>C | NP_001273066.1:n.7+2508T>C | |
| NM_000903.3:c.7+2508T>C MANE Select | NP_000894.1:n.7+2508T>C | |
| NM_001025433.2:c.7+2508T>C | NP_001020604.1:n.7+2508T>C | |
| NM_001025434.2:c.7+2508T>C | NP_001020605.1:n.7+2508T>C | |
| NM_001286137.2:c.7+2508T>C | NP_001273066.1:n.7+2508T>C |