Linked Data
dbSNP Id:
rs368444454
gnomAD v2:
9-37429875-A-G
gnomAD v3:
9-37429878-A-G
gnomAD v4:
9-37429878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429878A>G , CM000671.2:g.37429878A>G | GRCh38 |
| NC_000009.11:g.37429875A>G , CM000671.1:g.37429875A>G | GRCh37 |
| NC_000009.10:g.37419875A>G | NCBI36 |
| NG_008135.1:g.12169A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.598+42A>G MANE Select | ENSP00000313432.6:n.598+42A>G | |
| ENST00000318158.10:c.598+42A>G | ENSP00000313432.6:n.598+42A>G | |
| ENST00000377824.8:n.635+42A>G | ||
| ENST00000460882.5:n.625+42A>G | ||
| ENST00000480596.5:n.1299+42A>G | ||
| ENST00000482603.1:n.51+42A>G | ||
| ENST00000491488.5:n.303+42A>G | ||
| ENST00000494290.1:c.169+42A>G | ENSP00000432021.1:n.169+42A>G | |
| ENST00000497693.1:n.2173A>G | ||
| ENST00000607784.1:c.598+42A>G | ENSP00000475569.1:n.598+42A>G | |
| NM_012203.1:c.598+42A>G | NP_036335.1:n.598+42A>G | |
| XM_005251631.1:c.277+42A>G | XP_005251688.1:n.277+42A>G | |
| XM_011518073.1:c.196+42A>G | XP_011516375.1:n.196+42A>G | |
| XR_929374.1:n.1043+42A>G | ||
| XM_017015320.2:c.598+42A>G | XP_016870809.1:n.598+42A>G | |
| XM_017015321.2:c.598+42A>G | XP_016870810.1:n.598+42A>G | |
| XM_017015323.2:c.196+42A>G | XP_016870812.1:n.196+42A>G | |
| XM_024447716.1:c.871+42A>G | XP_024303484.1:n.871+42A>G | |
| XM_024447717.1:c.871+42A>G | XP_024303485.1:n.871+42A>G | |
| XR_002956828.1:n.886+42A>G | ||
| XR_002956829.1:n.886+42A>G | ||
| XR_002956830.1:n.657+42A>G | ||
| XR_002956831.1:n.332+42A>G | ||
| XR_002956832.1:n.1017+42A>G | ||
| NM_012203.2:c.598+42A>G MANE Select | NP_036335.1:n.598+42A>G |