Linked Data
dbSNP Id:
rs564935101
ExAC:
21:27269960 C / G
gnomAD v2:
21-27269960-C-G
gnomAD v3:
21-25897648-C-G
gnomAD v4:
21-25897648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897648C>G , CM000683.2:g.25897648C>G | GRCh38 |
| NC_000021.8:g.27269960C>G , CM000683.1:g.27269960C>G | GRCh37 |
| NC_000021.7:g.26191831C>G | NCBI36 |
| NG_007376.1:g.278173G>C | |
| NG_007376.2:g.278481G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.1956G>C | ||
| ENST00000707133.1:n.386G>C | ||
| ENST00000707134.1:n.655G>C | ||
| ENST00000346798.8:c.1989G>C MANE Select | ENSP00000284981.4:p.Thr663= | |
| ENST00000346798.7:c.1989G>C | ENSP00000284981.4:p.Thr663= | |
| ENST00000348990.9:c.1764G>C | ENSP00000345463.5:p.Thr588= | |
| ENST00000354192.7:c.1596G>C | ENSP00000346129.3:p.Thr532= | |
| ENST00000357903.7:c.1932G>C | ENSP00000350578.3:p.Thr644= | |
| ENST00000358918.7:c.1935G>C | ENSP00000351796.3:p.Thr645= | |
| ENST00000359726.7:c.1659G>C | ENSP00000352760.4:p.Thr553= | |
| ENST00000439274.6:c.1821G>C | ENSP00000398879.2:p.Thr607= | |
| ENST00000440126.7:c.1917G>C | ENSP00000387483.2:p.Thr639= | |
| ENST00000464867.1:n.336G>C | ||
| NM_000484.3:c.1989G>C | NP_000475.1:p.Thr663= | |
| NM_001136016.3:c.1917G>C | NP_001129488.1:p.Thr639= | |
| NM_001136129.2:c.1596G>C | NP_001129601.1:p.Thr532= | |
| NM_001136130.2:c.1821G>C | NP_001129602.1:p.Thr607= | |
| NM_001136131.2:c.1659G>C | NP_001129603.1:p.Thr553= | |
| NM_001204301.1:c.1935G>C | NP_001191230.1:p.Thr645= | |
| NM_001204302.1:c.1878G>C | NP_001191231.1:p.Thr626= | |
| NM_001204303.1:c.1710G>C | NP_001191232.1:p.Thr570= | |
| NM_201413.2:c.1932G>C | NP_958816.1:p.Thr644= | |
| NM_201414.2:c.1764G>C | NP_958817.1:p.Thr588= | |
| NM_000484.4:c.1989G>C MANE Select | NP_000475.1:p.Thr663= | |
| NM_001136129.3:c.1596G>C | NP_001129601.1:p.Thr532= | |
| NM_001136130.3:c.1821G>C | NP_001129602.1:p.Thr607= | |
| NM_001204301.2:c.1935G>C | NP_001191230.1:p.Thr645= | |
| NM_001204302.2:c.1878G>C | NP_001191231.1:p.Thr626= | |
| NM_001204303.2:c.1710G>C | NP_001191232.1:p.Thr570= | |
| NM_201413.3:c.1932G>C | NP_958816.1:p.Thr644= | |
| NM_201414.3:c.1764G>C | NP_958817.1:p.Thr588= | |
| NM_001136131.3:c.1659G>C | NP_001129603.1:p.Thr553= | |
| NM_001385253.1:c.1821G>C | NP_001372182.1:p.Thr607= |