Linked Data
dbSNP Id:
rs11079571
gnomAD v2:
17-63548681-A-G
gnomAD v3:
17-65552563-A-G
gnomAD v4:
17-65552563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65552563A>G , CM000679.2:g.65552563A>G | GRCh38 |
| NC_000017.10:g.63548681A>G , CM000679.1:g.63548681A>G | GRCh37 |
| NC_000017.9:g.60979143A>G | NCBI36 |
| NG_012142.1:g.14060T>C , LRG_296:g.14060T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307078.10:c.816-2903T>C MANE Select | ENSP00000302625.5:n.816-2903T>C | |
| ENST00000307078.9:c.816-2903T>C | ENSP00000302625.5:n.816-2903T>C | |
| ENST00000375702.5:c.816-2903T>C | ENSP00000364854.5:n.816-2903T>C | |
| ENST00000577662.1:c.1131-2903T>C | ||
| ENST00000611991.1:c.396+5662T>C | ENSP00000481191.1:n.396+5662T>C | |
| ENST00000618960.4:c.816-2903T>C | ENSP00000478916.1:n.816-2903T>C | |
| NM_004655.3:c.816-2903T>C , LRG_296t1:c.816-2903T>C | NP_004646.3:n.816-2903T>C | |
| XM_011525319.1:c.816-2903T>C | XP_011523621.1:n.816-2903T>C | |
| XM_011525320.1:c.816-2903T>C | XP_011523622.1:n.816-2903T>C | |
| XM_011525321.1:c.816-2903T>C | XP_011523623.1:n.816-2903T>C | |
| XM_011525322.1:c.816-2903T>C | XP_011523624.1:n.816-2903T>C | |
| NM_001363813.1:c.816-2903T>C | NP_001350742.1:n.816-2903T>C | |
| NM_004655.4:c.816-2903T>C MANE Select | NP_004646.3:n.816-2903T>C | |
| XM_011525319.2:c.816-2903T>C | XP_011523621.1:n.816-2903T>C | |
| XM_011525321.2:c.816-2903T>C | XP_011523623.1:n.816-2903T>C | |
| XM_017025192.1:c.816-2903T>C | XP_016880681.1:n.816-2903T>C | |
| XM_017025193.1:c.816-2903T>C | XP_016880682.1:n.816-2903T>C |