Linked Data
dbSNP Id:
rs977462010
gnomAD v2:
19-45855296-C-T
gnomAD v3:
19-45352038-C-T
gnomAD v4:
19-45352038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352038C>T , CM000681.2:g.45352038C>T | GRCh38 |
| NC_000019.9:g.45855296C>T , CM000681.1:g.45855296C>T | GRCh37 |
| NC_000019.8:g.50547136C>T | NCBI36 |
| NG_007067.2:g.23550G>A , LRG_461:g.23550G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2361G>A | ENSP00000375808.4:p.Ser787= | |
| ENST00000682414.1:c.2190+171G>A | ENSP00000507019.1:n.2190+171G>A | |
| ENST00000682508.1:n.2219+171G>A | ||
| ENST00000684218.1:c.*1448+171G>A | ENSP00000507804.1:n.*1448+171G>A | |
| ENST00000684264.1:n.1746+171G>A | ||
| ENST00000684407.1:c.2067+171G>A | ENSP00000507775.1:n.2067+171G>A | |
| ENST00000684458.1:c.*676+171G>A | ENSP00000508260.1:n.*676+171G>A | |
| ENST00000684468.1:n.1902+171G>A | ||
| ENST00000391945.10:c.2190+171G>A MANE Select | ENSP00000375809.4:n.2190+171G>A | |
| ENST00000646507.1:n.2287+171G>A | ||
| ENST00000391942.6:n.1361+171G>A | ||
| ENST00000391944.7:c.1956+171G>A | ENSP00000375808.3:n.1956+171G>A | |
| ENST00000391945.8:c.2190+171G>A | ENSP00000375809.3:n.2190+171G>A | |
| ENST00000588652.5:n.2278+171G>A | ||
| NM_000400.3:c.2190+171G>A , LRG_461t1:c.2190+171G>A | NP_000391.1:n.2190+171G>A | |
| XM_011526611.1:c.2112+171G>A | XP_011524913.1:n.2112+171G>A | |
| XM_011526611.2:c.2112+171G>A | XP_011524913.1:n.2112+171G>A | |
| XM_017026467.1:c.2067+171G>A | XP_016881956.1:n.2067+171G>A | |
| XR_001753633.2:n.2237+171G>A | ||
| XR_001753634.2:n.2173+171G>A | ||
| NM_000400.4:c.2190+171G>A MANE Select | NP_000391.1:n.2190+171G>A |