Linked Data
dbSNP Id:
rs927338037
gnomAD v2:
5-94852462-G-T
gnomAD v3:
5-95516758-G-T
gnomAD v4:
5-95516758-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516758G>T , CM000667.2:g.95516758G>T | GRCh38 |
| NC_000005.9:g.94852462G>T , CM000667.1:g.94852462G>T | GRCh37 |
| NC_000005.8:g.94878218G>T | NCBI36 |
| NG_023414.1:g.43248C>A , LRG_173:g.43248C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2884C>A | ||
| ENST00000513232.2:c.*1309C>A | ENSP00000422749.2:n.*1309C>A | |
| ENST00000698450.1:n.1821-8C>A | ||
| ENST00000698451.1:n.2014C>A | ||
| ENST00000698452.1:n.3085C>A | ||
| ENST00000698453.1:c.2441+153C>A | ENSP00000513735.1:n.2441+153C>A | |
| ENST00000698454.1:c.2428-8C>A | ENSP00000513736.1:n.2428-8C>A | |
| ENST00000698455.1:c.*2570C>A | ENSP00000513737.1:n.*2570C>A | |
| ENST00000698456.1:c.*1295-8C>A | ENSP00000513738.1:n.*1295-8C>A | |
| ENST00000698457.1:c.2227-8C>A | ENSP00000513739.1:n.2227-8C>A | |
| ENST00000698458.1:c.2477+153C>A | ENSP00000513740.1:n.2477+153C>A | |
| ENST00000698459.1:c.2437-8C>A | ENSP00000513741.1:n.2437-8C>A | |
| ENST00000698460.1:c.*278+158C>A | ENSP00000513742.1:n.*278+158C>A | |
| ENST00000698461.1:n.2884C>A | ||
| ENST00000698462.1:n.2812-8C>A | ||
| ENST00000698468.1:n.3085C>A | ||
| ENST00000698469.1:c.*1941C>A | ENSP00000513743.1:n.*1941C>A | |
| ENST00000698470.1:c.*436C>A | ENSP00000513744.1:n.*436C>A | |
| ENST00000698471.1:n.2884C>A | ||
| ENST00000698472.1:c.*1309C>A | ENSP00000513745.1:n.*1309C>A | |
| ENST00000698473.1:n.2884C>A | ||
| ENST00000698474.1:n.2884C>A | ||
| ENST00000698475.1:n.2969C>A | ||
| ENST00000698476.1:c.2437-8C>A | ENSP00000513746.1:n.2437-8C>A | |
| ENST00000698477.1:c.2441+153C>A | ENSP00000513747.1:n.2441+153C>A | |
| ENST00000698478.1:n.2884C>A | ||
| ENST00000698479.1:c.2437-8C>A | ENSP00000513748.1:n.2437-8C>A | |
| ENST00000698480.1:c.2436+158C>A | ENSP00000513749.1:n.2436+158C>A | |
| ENST00000698481.1:c.2436+158C>A | ENSP00000513750.1:n.2436+158C>A | |
| ENST00000698482.1:n.2727-8C>A | ||
| ENST00000698483.1:n.2884C>A | ||
| ENST00000698484.1:c.2437-8C>A | ENSP00000513751.1:n.2437-8C>A | |
| ENST00000698485.1:c.2436+158C>A | ENSP00000513752.1:n.2436+158C>A | |
| ENST00000698486.1:n.2884C>A | ||
| ENST00000698487.1:c.2437-8C>A | ENSP00000513753.1:n.2437-8C>A | |
| ENST00000698488.1:c.2259+158C>A | ENSP00000513754.1:n.2259+158C>A | |
| ENST00000698489.1:n.6669C>A | ||
| ENST00000698490.1:c.2437-8C>A | ENSP00000513755.1:n.2437-8C>A | |
| ENST00000698492.1:c.*1152-8C>A | ENSP00000513756.1:n.*1152-8C>A | |
| ENST00000698493.1:n.2727-8C>A | ||
| ENST00000698494.1:c.*324C>A | ENSP00000513757.1:n.*324C>A | |
| ENST00000358746.7:c.2437-8C>A MANE Select | ENSP00000351596.3:n.2437-8C>A | |
| ENST00000649566.1:c.2437-8C>A | ENSP00000497948.1:n.2437-8C>A | |
| ENST00000358746.6:c.2437-8C>A | ENSP00000351596.2:n.2437-8C>A | |
| ENST00000506007.1:n.11C>A | ||
| ENST00000507805.5:n.616C>A | ||
| NM_014639.3:c.2437-8C>A , LRG_173t1:c.2437-8C>A | NP_055454.1:n.2437-8C>A | |
| XR_948312.1:n.2706-8C>A | ||
| XR_001742370.2:n.2709-8C>A | ||
| NM_014639.4:c.2437-8C>A MANE Select | NP_055454.1:n.2437-8C>A |