Linked Data
dbSNP Id:
rs13008299
gnomAD v2:
2-29247997-T-G
gnomAD v3:
2-29025131-T-G
gnomAD v4:
2-29025131-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29025131T>G , CM000664.2:g.29025131T>G | GRCh38 |
| NC_000002.11:g.29247997T>G , CM000664.1:g.29247997T>G | GRCh37 |
| NC_000002.10:g.29101501T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379558.5:c.1853+757T>G MANE Select | ENSP00000368876.3:n.1853+757T>G | |
| ENST00000379558.4:c.1853+757T>G | ENSP00000368876.3:n.1853+757T>G | |
| ENST00000401723.5:c.158+757T>G | ENSP00000384897.1:n.158+757T>G | |
| ENST00000465300.5:n.588+757T>G | ||
| NM_199280.2:c.1853+757T>G | NP_954974.2:n.1853+757T>G | |
| XM_011532627.1:c.1688+757T>G | XP_011530929.1:n.1688+757T>G | |
| XM_011532628.1:c.1853+757T>G | XP_011530930.1:n.1853+757T>G | |
| XM_011532629.1:c.*43+713T>G | XP_011530931.1:n.*43+713T>G | |
| XM_011532630.1:c.434+757T>G | XP_011530932.1:n.434+757T>G | |
| XM_011532631.1:c.434+757T>G | XP_011530933.1:n.434+757T>G | |
| XR_939669.1:n.2204+757T>G | ||
| XR_939670.1:n.2204+757T>G | ||
| NM_001321538.1:c.1688+757T>G | NP_001308467.1:n.1688+757T>G | |
| NM_001321539.1:c.1280+757T>G | NP_001308468.1:n.1280+757T>G | |
| XM_011532628.2:c.1853+757T>G | XP_011530930.1:n.1853+757T>G | |
| XM_017003507.1:c.1853+757T>G | XP_016858996.1:n.1853+757T>G | |
| XM_017003508.1:c.1331+757T>G | XP_016858997.1:n.1331+757T>G | |
| XM_017003509.1:c.1157+757T>G | XP_016858998.1:n.1157+757T>G | |
| XM_017003510.1:c.848+757T>G | XP_016858999.1:n.848+757T>G | |
| XM_017003511.1:c.839+757T>G | XP_016859000.1:n.839+757T>G | |
| XM_017003512.2:c.1853+757T>G | XP_016859001.1:n.1853+757T>G | |
| XM_017003513.1:c.524+757T>G | XP_016859002.1:n.524+757T>G | |
| XM_017003514.1:c.449+757T>G | XP_016859003.1:n.449+757T>G | |
| XM_017003515.2:c.434+757T>G | XP_016859004.1:n.434+757T>G | |
| XM_017003516.1:c.338+757T>G | XP_016859005.1:n.338+757T>G | |
| NM_001321538.2:c.1688+757T>G | NP_001308467.1:n.1688+757T>G | |
| NM_001321539.2:c.1280+757T>G | NP_001308468.1:n.1280+757T>G | |
| NM_199280.3:c.1853+757T>G | NP_954974.2:n.1853+757T>G | |
| NM_001321538.3:c.1688+757T>G | NP_001308467.1:n.1688+757T>G | |
| NM_001321539.3:c.1280+757T>G | NP_001308468.1:n.1280+757T>G | |
| NM_199280.4:c.1853+757T>G MANE Select | NP_954974.2:n.1853+757T>G |