Linked Data
dbSNP Id:
rs1404532944
gnomAD v2:
9-37424999-G-C
gnomAD v3:
9-37425002-G-C
gnomAD v4:
9-37425002-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37425002G>C , CM000671.2:g.37425002G>C | GRCh38 |
| NC_000009.11:g.37424999G>C , CM000671.1:g.37424999G>C | GRCh37 |
| NC_000009.10:g.37414999G>C | NCBI36 |
| NG_008135.1:g.7293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.214+27G>C MANE Select | ENSP00000313432.6:n.214+27G>C | |
| ENST00000318158.10:c.214+27G>C | ENSP00000313432.6:n.214+27G>C | |
| ENST00000377824.8:n.251+27G>C | ||
| ENST00000460882.5:n.241+27G>C | ||
| ENST00000487399.5:n.223+27G>C | ||
| ENST00000491488.5:n.109+2169G>C | ||
| ENST00000493368.5:n.271+27G>C | ||
| ENST00000607784.1:c.214+27G>C | ENSP00000475569.1:n.214+27G>C | |
| NM_012203.1:c.214+27G>C | NP_036335.1:n.214+27G>C | |
| XM_005251631.1:c.83+2169G>C | XP_005251688.1:n.83+2169G>C | |
| XM_011518073.1:c.-549+27G>C | XP_011516375.1:n.-549+27G>C | |
| XR_929374.1:n.299+27G>C | ||
| XM_017015320.2:c.214+27G>C | XP_016870809.1:n.214+27G>C | |
| XM_017015321.2:c.214+27G>C | XP_016870810.1:n.214+27G>C | |
| XM_017015323.2:c.-549+27G>C | XP_016870812.1:n.-549+27G>C | |
| XM_024447716.1:c.487+27G>C | XP_024303484.1:n.487+27G>C | |
| XM_024447717.1:c.487+27G>C | XP_024303485.1:n.487+27G>C | |
| XR_002956828.1:n.502+27G>C | ||
| XR_002956829.1:n.502+27G>C | ||
| XR_002956830.1:n.273+27G>C | ||
| XR_002956831.1:n.138+2169G>C | ||
| XR_002956832.1:n.273+27G>C | ||
| NM_012203.2:c.214+27G>C MANE Select | NP_036335.1:n.214+27G>C |