gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.186657954A>G , CM000664.2:g.186657954A>G | GRCh38 |
| NC_000002.11:g.187522681A>G , CM000664.1:g.187522681A>G | GRCh37 |
| NC_000002.10:g.187230926A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696906.1:c.1720-1084A>G | ENSP00000512967.1:n.1720-1084A>G | |
| ENST00000696907.1:c.1435-1084A>G | ENSP00000512968.1:n.1435-1084A>G | |
| ENST00000696908.1:c.*1130-1084A>G | ENSP00000512969.1:n.*1130-1084A>G | |
| ENST00000696909.1:c.1543-1084A>G | ENSP00000512970.1:n.1543-1084A>G | |
| ENST00000696910.1:c.1720-1084A>G | ENSP00000512971.1:n.1720-1084A>G | |
| ENST00000696911.1:c.1720-1084A>G | ENSP00000512972.1:n.1720-1084A>G | |
| ENST00000696912.1:c.1612-1084A>G | ENSP00000512973.1:n.1612-1084A>G | |
| ENST00000696913.1:c.1720-1084A>G | ENSP00000512974.1:n.1720-1084A>G | |
| ENST00000696914.1:c.*1272-1084A>G | ENSP00000512975.1:n.*1272-1084A>G | |
| ENST00000696917.1:n.2229-1084A>G | ||
| ENST00000696918.1:n.1181-1084A>G | ||
| ENST00000696936.1:n.1990-1084A>G | ||
| ENST00000696937.1:c.1720-1084A>G | ENSP00000512982.1:n.1720-1084A>G | |
| ENST00000261023.8:c.1720-1084A>G MANE Select | ENSP00000261023.3:n.1720-1084A>G | |
| ENST00000261023.7:c.1720-1084A>G | ENSP00000261023.3:n.1720-1084A>G | |
| ENST00000374907.7:c.1612-1084A>G | ENSP00000364042.3:n.1612-1084A>G | |
| ENST00000433736.6:c.1582-1084A>G | ENSP00000404291.2:n.1582-1084A>G | |
| NM_001144999.2:c.1582-1084A>G | NP_001138471.1:n.1582-1084A>G | |
| NM_001145000.2:c.1612-1084A>G | NP_001138472.1:n.1612-1084A>G | |
| NM_002210.4:c.1720-1084A>G | NP_002201.1:n.1720-1084A>G | |
| XM_006712513.2:c.1279-1084A>G | XP_006712576.1:n.1279-1084A>G | |
| NM_002210.5:c.1720-1084A>G MANE Select | NP_002201.2:n.1720-1084A>G | |
| NM_001145000.3:c.1612-1084A>G | NP_001138472.2:n.1612-1084A>G | |
| NM_001144999.3:c.1582-1084A>G | NP_001138471.2:n.1582-1084A>G |