Linked Data
dbSNP Id:
rs764146905
ExAC:
5:94852474 G / A
gnomAD v2:
5-94852474-G-A
gnomAD v3:
5-95516770-G-A
gnomAD v4:
5-95516770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516770G>A , CM000667.2:g.95516770G>A | GRCh38 |
| NC_000005.9:g.94852474G>A , CM000667.1:g.94852474G>A | GRCh37 |
| NC_000005.8:g.94878230G>A | NCBI36 |
| NG_023414.1:g.43236C>T , LRG_173:g.43236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2872C>T | ||
| ENST00000513232.2:c.*1297C>T | ENSP00000422749.2:n.*1297C>T | |
| ENST00000698450.1:n.1821-20C>T | ||
| ENST00000698451.1:n.2002C>T | ||
| ENST00000698452.1:n.3073C>T | ||
| ENST00000698453.1:c.2441+141C>T | ENSP00000513735.1:n.2441+141C>T | |
| ENST00000698454.1:c.2428-20C>T | ENSP00000513736.1:n.2428-20C>T | |
| ENST00000698455.1:c.*2558C>T | ENSP00000513737.1:n.*2558C>T | |
| ENST00000698456.1:c.*1295-20C>T | ENSP00000513738.1:n.*1295-20C>T | |
| ENST00000698457.1:c.2227-20C>T | ENSP00000513739.1:n.2227-20C>T | |
| ENST00000698458.1:c.2477+141C>T | ENSP00000513740.1:n.2477+141C>T | |
| ENST00000698459.1:c.2437-20C>T | ENSP00000513741.1:n.2437-20C>T | |
| ENST00000698460.1:c.*278+146C>T | ENSP00000513742.1:n.*278+146C>T | |
| ENST00000698461.1:n.2872C>T | ||
| ENST00000698462.1:n.2812-20C>T | ||
| ENST00000698468.1:n.3073C>T | ||
| ENST00000698469.1:c.*1929C>T | ENSP00000513743.1:n.*1929C>T | |
| ENST00000698470.1:c.*424C>T | ENSP00000513744.1:n.*424C>T | |
| ENST00000698471.1:n.2872C>T | ||
| ENST00000698472.1:c.*1297C>T | ENSP00000513745.1:n.*1297C>T | |
| ENST00000698473.1:n.2872C>T | ||
| ENST00000698474.1:n.2872C>T | ||
| ENST00000698475.1:n.2957C>T | ||
| ENST00000698476.1:c.2437-20C>T | ENSP00000513746.1:n.2437-20C>T | |
| ENST00000698477.1:c.2441+141C>T | ENSP00000513747.1:n.2441+141C>T | |
| ENST00000698478.1:n.2872C>T | ||
| ENST00000698479.1:c.2437-20C>T | ENSP00000513748.1:n.2437-20C>T | |
| ENST00000698480.1:c.2436+146C>T | ENSP00000513749.1:n.2436+146C>T | |
| ENST00000698481.1:c.2436+146C>T | ENSP00000513750.1:n.2436+146C>T | |
| ENST00000698482.1:n.2727-20C>T | ||
| ENST00000698483.1:n.2872C>T | ||
| ENST00000698484.1:c.2437-20C>T | ENSP00000513751.1:n.2437-20C>T | |
| ENST00000698485.1:c.2436+146C>T | ENSP00000513752.1:n.2436+146C>T | |
| ENST00000698486.1:n.2872C>T | ||
| ENST00000698487.1:c.2437-20C>T | ENSP00000513753.1:n.2437-20C>T | |
| ENST00000698488.1:c.2259+146C>T | ENSP00000513754.1:n.2259+146C>T | |
| ENST00000698489.1:n.6657C>T | ||
| ENST00000698490.1:c.2437-20C>T | ENSP00000513755.1:n.2437-20C>T | |
| ENST00000698492.1:c.*1152-20C>T | ENSP00000513756.1:n.*1152-20C>T | |
| ENST00000698493.1:n.2727-20C>T | ||
| ENST00000698494.1:c.*312C>T | ENSP00000513757.1:n.*312C>T | |
| ENST00000358746.7:c.2437-20C>T MANE Select | ENSP00000351596.3:n.2437-20C>T | |
| ENST00000649566.1:c.2437-20C>T | ENSP00000497948.1:n.2437-20C>T | |
| ENST00000358746.6:c.2437-20C>T | ENSP00000351596.2:n.2437-20C>T | |
| ENST00000507805.5:n.604C>T | ||
| NM_014639.3:c.2437-20C>T , LRG_173t1:c.2437-20C>T | NP_055454.1:n.2437-20C>T | |
| XR_948312.1:n.2706-20C>T | ||
| XR_001742370.2:n.2709-20C>T | ||
| NM_014639.4:c.2437-20C>T MANE Select | NP_055454.1:n.2437-20C>T |