Linked Data
ClinVar Variation Id:
2976145
ClinVar RCV Id:
RCV003836295
dbSNP Id:
rs372380096
gnomAD v2:
11-18309246-A-G
gnomAD v4:
11-18287699-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18287699A>G , CM000673.2:g.18287699A>G | GRCh38 |
| NC_000011.9:g.18309246A>G , CM000673.1:g.18309246A>G | GRCh37 |
| NC_000011.8:g.18265822A>G | NCBI36 |
| NG_008877.1:g.39476T>C , LRG_586:g.39476T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2562-9T>C MANE Select | ENSP00000265967.5:n.2562-9T>C | |
| ENST00000349215.7:c.2562-9T>C | ENSP00000265967.5:n.2562-9T>C | |
| ENST00000352460.7:n.953-9T>C | ||
| ENST00000396253.7:c.2220-9T>C | ENSP00000379552.3:n.2220-9T>C | |
| ENST00000438420.6:c.2220-9T>C | ENSP00000399590.2:n.2220-9T>C | |
| ENST00000544218.5:c.120-9T>C | ENSP00000441781.1:n.120-9T>C | |
| ENST00000545561.1:n.623-9T>C | ||
| NM_007216.3:c.2220-9T>C | NP_009147.3:n.2220-9T>C | |
| NM_181507.1:c.2562-9T>C , LRG_586t1:c.2562-9T>C | NP_852608.1:n.2562-9T>C | |
| NM_181508.1:c.2220-9T>C | NP_852609.1:n.2220-9T>C | |
| XM_011519862.1:c.2562-9T>C | XP_011518164.1:n.2562-9T>C | |
| XM_011519863.1:c.2562-9T>C | XP_011518165.1:n.2562-9T>C | |
| XM_011519864.1:c.2562-9T>C | XP_011518166.1:n.2562-9T>C | |
| XM_011519865.1:c.2451-9T>C | XP_011518167.1:n.2451-9T>C | |
| XM_011519866.1:c.2220-9T>C | XP_011518168.1:n.2220-9T>C | |
| XM_011519867.1:c.2220-9T>C | XP_011518169.1:n.2220-9T>C | |
| XM_011519868.1:c.2220-9T>C | XP_011518170.1:n.2220-9T>C | |
| XM_011519869.1:c.2562-9T>C | XP_011518171.1:n.2562-9T>C | |
| XM_011519870.1:c.*46-9T>C | XP_011518172.1:n.*46-9T>C | |
| XM_011519871.1:c.*46-9T>C | XP_011518173.1:n.*46-9T>C | |
| XM_011519868.3:c.2220-9T>C | XP_011518170.1:n.2220-9T>C | |
| XM_017017149.1:c.2562-9T>C | XP_016872638.1:n.2562-9T>C | |
| XM_017017150.1:c.2562-9T>C | XP_016872639.1:n.2562-9T>C | |
| XM_017017151.2:c.2451-9T>C | XP_016872640.1:n.2451-9T>C | |
| XM_017017152.1:c.2451-9T>C | XP_016872641.1:n.2451-9T>C | |
| XM_017017153.2:c.2451-9T>C | XP_016872642.1:n.2451-9T>C | |
| XM_017017154.1:c.2220-9T>C | XP_016872643.1:n.2220-9T>C | |
| XR_001747750.1:n.2831-9T>C | ||
| XR_001747751.1:n.2831-9T>C | ||
| XR_001747752.1:n.2587-9T>C | ||
| XR_001747753.1:n.2704-9T>C | ||
| XR_001747754.2:n.2228-9T>C | ||
| XR_001747755.2:n.2150-9T>C | ||
| XR_001747756.2:n.2163-9T>C | ||
| NM_007216.4:c.2220-9T>C | NP_009147.3:n.2220-9T>C | |
| NM_181507.2:c.2562-9T>C MANE Select | NP_852608.1:n.2562-9T>C |