Linked Data
dbSNP Id:
rs774394741
ExAC:
21:27264001 C / A
gnomAD v2:
21-27264001-C-A
gnomAD v3:
21-25891689-C-A
gnomAD v4:
21-25891689-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891689C>A , CM000683.2:g.25891689C>A | GRCh38 |
| NC_000021.8:g.27264001C>A , CM000683.1:g.27264001C>A | GRCh37 |
| NC_000021.7:g.26185872C>A | NCBI36 |
| NG_007376.1:g.284132G>T | |
| NG_007376.2:g.284440G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707132.1:n.2178+33G>T | ||
| ENST00000707133.1:n.608+33G>T | ||
| ENST00000707134.1:n.877+33G>T | ||
| ENST00000346798.8:c.2211+33G>T MANE Select | ENSP00000284981.4:n.2211+33G>T | |
| ENST00000346798.7:c.2211+33G>T | ENSP00000284981.4:n.2211+33G>T | |
| ENST00000348990.9:c.1986+33G>T | ENSP00000345463.5:n.1986+33G>T | |
| ENST00000354192.7:c.1818+33G>T | ENSP00000346129.3:n.1818+33G>T | |
| ENST00000357903.7:c.2154+33G>T | ENSP00000350578.3:n.2154+33G>T | |
| ENST00000358918.7:c.2157+33G>T | ENSP00000351796.3:n.2157+33G>T | |
| ENST00000359726.7:c.1881+33G>T | ENSP00000352760.4:n.1881+33G>T | |
| ENST00000439274.6:c.2043+33G>T | ENSP00000398879.2:n.2043+33G>T | |
| ENST00000440126.7:c.2139+33G>T | ENSP00000387483.2:n.2139+33G>T | |
| ENST00000464867.1:n.558+33G>T | ||
| NM_000484.3:c.2211+33G>T | NP_000475.1:n.2211+33G>T | |
| NM_001136016.3:c.2139+33G>T | NP_001129488.1:n.2139+33G>T | |
| NM_001136129.2:c.1818+33G>T | NP_001129601.1:n.1818+33G>T | |
| NM_001136130.2:c.2043+33G>T | NP_001129602.1:n.2043+33G>T | |
| NM_001136131.2:c.1881+33G>T | NP_001129603.1:n.1881+33G>T | |
| NM_001204301.1:c.2157+33G>T | NP_001191230.1:n.2157+33G>T | |
| NM_001204302.1:c.2100+33G>T | NP_001191231.1:n.2100+33G>T | |
| NM_001204303.1:c.1932+33G>T | NP_001191232.1:n.1932+33G>T | |
| NM_201413.2:c.2154+33G>T | NP_958816.1:n.2154+33G>T | |
| NM_201414.2:c.1986+33G>T | NP_958817.1:n.1986+33G>T | |
| NM_000484.4:c.2211+33G>T MANE Select | NP_000475.1:n.2211+33G>T | |
| NM_001136129.3:c.1818+33G>T | NP_001129601.1:n.1818+33G>T | |
| NM_001136130.3:c.2043+33G>T | NP_001129602.1:n.2043+33G>T | |
| NM_001204301.2:c.2157+33G>T | NP_001191230.1:n.2157+33G>T | |
| NM_001204302.2:c.2100+33G>T | NP_001191231.1:n.2100+33G>T | |
| NM_001204303.2:c.1932+33G>T | NP_001191232.1:n.1932+33G>T | |
| NM_201413.3:c.2154+33G>T | NP_958816.1:n.2154+33G>T | |
| NM_201414.3:c.1986+33G>T | NP_958817.1:n.1986+33G>T | |
| NM_001136131.3:c.1881+33G>T | NP_001129603.1:n.1881+33G>T | |
| NM_001385253.1:c.2043+33G>T | NP_001372182.1:n.2043+33G>T |