Linked Data
dbSNP Id:
rs3923086
gnomAD v2:
17-63549488-A-C
gnomAD v3:
17-65553370-A-C
gnomAD v4:
17-65553370-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65553370A>C , CM000679.2:g.65553370A>C | GRCh38 |
| NC_000017.10:g.63549488A>C , CM000679.1:g.63549488A>C | GRCh37 |
| NC_000017.9:g.60979950A>C | NCBI36 |
| NG_012142.1:g.13253T>G , LRG_296:g.13253T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307078.10:c.816-3710T>G MANE Select | ENSP00000302625.5:n.816-3710T>G | |
| ENST00000307078.9:c.816-3710T>G | ENSP00000302625.5:n.816-3710T>G | |
| ENST00000375702.5:c.816-3710T>G | ENSP00000364854.5:n.816-3710T>G | |
| ENST00000577662.1:c.1131-3710T>G | ||
| ENST00000611991.1:c.396+4855T>G | ENSP00000481191.1:n.396+4855T>G | |
| ENST00000618960.4:c.816-3710T>G | ENSP00000478916.1:n.816-3710T>G | |
| NM_004655.3:c.816-3710T>G , LRG_296t1:c.816-3710T>G | NP_004646.3:n.816-3710T>G | |
| XM_011525319.1:c.816-3710T>G | XP_011523621.1:n.816-3710T>G | |
| XM_011525320.1:c.816-3710T>G | XP_011523622.1:n.816-3710T>G | |
| XM_011525321.1:c.816-3710T>G | XP_011523623.1:n.816-3710T>G | |
| XM_011525322.1:c.816-3710T>G | XP_011523624.1:n.816-3710T>G | |
| NM_001363813.1:c.816-3710T>G | NP_001350742.1:n.816-3710T>G | |
| NM_004655.4:c.816-3710T>G MANE Select | NP_004646.3:n.816-3710T>G | |
| XM_011525319.2:c.816-3710T>G | XP_011523621.1:n.816-3710T>G | |
| XM_011525321.2:c.816-3710T>G | XP_011523623.1:n.816-3710T>G | |
| XM_017025192.1:c.816-3710T>G | XP_016880681.1:n.816-3710T>G | |
| XM_017025193.1:c.816-3710T>G | XP_016880682.1:n.816-3710T>G |