gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6223749T>G , CM000668.2:g.6223749T>G | GRCh38 |
| NC_000006.11:g.6223982T>G , CM000668.1:g.6223982T>G | GRCh37 |
| NC_000006.10:g.6168981T>G | NCBI36 |
| NG_008107.1:g.101943A>C , LRG_549:g.101943A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.973+937A>C MANE Select | ENSP00000264870.3:n.973+937A>C | |
| ENST00000264870.7:c.973+937A>C | ENSP00000264870.3:n.973+937A>C | |
| ENST00000445223.1:c.123+937A>C | ||
| NM_000129.3:c.973+937A>C , LRG_549t1:c.973+937A>C | NP_000120.2:n.973+937A>C | |
| XM_006715010.2:c.973+937A>C | XP_006715073.1:n.973+937A>C | |
| XM_011514342.1:c.1135+937A>C | XP_011512644.1:n.1135+937A>C | |
| NM_000129.4:c.973+937A>C MANE Select | NP_000120.2:n.973+937A>C |