Linked Data
ClinVar Variation Id:
98235
dbSNP Id:
rs63749953
gnomAD v2:
21-27269919-T-C
gnomAD v4:
21-25897607-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897607T>C , CM000683.2:g.25897607T>C | GRCh38 |
| NC_000021.8:g.27269919T>C , CM000683.1:g.27269919T>C | GRCh37 |
| NC_000021.7:g.26191790T>C | NCBI36 |
| NG_007376.1:g.278214A>G | |
| NG_007376.2:g.278522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707132.1:n.1997A>G | ||
| ENST00000707133.1:n.427A>G | ||
| ENST00000707134.1:n.696A>G | ||
| ENST00000346798.8:c.2030A>G MANE Select | ENSP00000284981.4:p.His677Arg | |
| ENST00000346798.7:c.2030A>G | ENSP00000284981.4:p.His677Arg | |
| ENST00000348990.9:c.1805A>G | ENSP00000345463.5:p.His602Arg | |
| ENST00000354192.7:c.1637A>G | ENSP00000346129.3:p.His546Arg | |
| ENST00000357903.7:c.1973A>G | ENSP00000350578.3:p.His658Arg | |
| ENST00000358918.7:c.1976A>G | ENSP00000351796.3:p.His659Arg | |
| ENST00000359726.7:c.1700A>G | ENSP00000352760.4:p.His567Arg | |
| ENST00000439274.6:c.1862A>G | ENSP00000398879.2:p.His621Arg | |
| ENST00000440126.7:c.1958A>G | ENSP00000387483.2:p.His653Arg | |
| ENST00000464867.1:n.377A>G | ||
| NM_000484.3:c.2030A>G | NP_000475.1:p.His677Arg | |
| NM_001136016.3:c.1958A>G | NP_001129488.1:p.His653Arg | |
| NM_001136129.2:c.1637A>G | NP_001129601.1:p.His546Arg | |
| NM_001136130.2:c.1862A>G | NP_001129602.1:p.His621Arg | |
| NM_001136131.2:c.1700A>G | NP_001129603.1:p.His567Arg | |
| NM_001204301.1:c.1976A>G | NP_001191230.1:p.His659Arg | |
| NM_001204302.1:c.1919A>G | NP_001191231.1:p.His640Arg | |
| NM_001204303.1:c.1751A>G | NP_001191232.1:p.His584Arg | |
| NM_201413.2:c.1973A>G | NP_958816.1:p.His658Arg | |
| NM_201414.2:c.1805A>G | NP_958817.1:p.His602Arg | |
| NM_000484.4:c.2030A>G MANE Select | NP_000475.1:p.His677Arg | |
| NM_001136129.3:c.1637A>G | NP_001129601.1:p.His546Arg | |
| NM_001136130.3:c.1862A>G | NP_001129602.1:p.His621Arg | |
| NM_001204301.2:c.1976A>G | NP_001191230.1:p.His659Arg | |
| NM_001204302.2:c.1919A>G | NP_001191231.1:p.His640Arg | |
| NM_001204303.2:c.1751A>G | NP_001191232.1:p.His584Arg | |
| NM_201413.3:c.1973A>G | NP_958816.1:p.His658Arg | |
| NM_201414.3:c.1805A>G | NP_958817.1:p.His602Arg | |
| NM_001136131.3:c.1700A>G | NP_001129603.1:p.His567Arg | |
| NM_001385253.1:c.1862A>G | NP_001372182.1:p.His621Arg |