Linked Data
dbSNP Id:
rs2169137
gnomAD v2:
1-204497913-G-C
gnomAD v3:
1-204528785-G-C
gnomAD v4:
1-204528785-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204528785G>C , CM000663.2:g.204528785G>C | GRCh38 |
| NC_000001.10:g.204497913G>C , CM000663.1:g.204497913G>C | GRCh37 |
| NC_000001.9:g.202764536G>C | NCBI36 |
| NG_029367.1:g.17407G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367182.8:c.154-1899G>C MANE Select | ENSP00000356150.3:n.154-1899G>C | |
| ENST00000367180.5:c.154-1899G>C | ENSP00000356148.1:n.154-1899G>C | |
| ENST00000367182.7:c.154-1899G>C | ENSP00000356150.3:n.154-1899G>C | |
| ENST00000367183.7:c.78+3189G>C | ENSP00000356151.3:n.78+3189G>C | |
| ENST00000391947.6:c.154-1899G>C | ENSP00000375811.2:n.154-1899G>C | |
| ENST00000454264.6:c.154-1899G>C | ENSP00000396840.2:n.154-1899G>C | |
| ENST00000463049.5:n.293-1899G>C | ||
| ENST00000470797.5:n.316-1899G>C | ||
| ENST00000470908.5:n.248-1899G>C | ||
| ENST00000471783.1:n.226+2351G>C | ||
| ENST00000507825.3:c.154-1899G>C | ENSP00000443816.2:n.154-1899G>C | |
| ENST00000612738.4:c.153+2351G>C | ENSP00000478080.1:n.153+2351G>C | |
| ENST00000614459.4:c.78+3189G>C | ENSP00000482388.1:n.78+3189G>C | |
| ENST00000616250.4:c.154-1899G>C | ENSP00000478581.1:n.154-1899G>C | |
| ENST00000621032.4:c.154-1899G>C | ENSP00000482479.1:n.154-1899G>C | |
| NM_001204171.1:c.154-1899G>C | NP_001191100.1:n.154-1899G>C | |
| NM_001204172.1:c.78+3189G>C | NP_001191101.1:n.78+3189G>C | |
| NM_001278516.1:c.154-1899G>C | NP_001265445.1:n.154-1899G>C | |
| NM_001278517.1:c.78+3189G>C | NP_001265446.1:n.78+3189G>C | |
| NM_001278518.1:c.154-1899G>C | NP_001265447.1:n.154-1899G>C | |
| NM_001278519.1:c.153+2351G>C | NP_001265448.1:n.153+2351G>C | |
| NM_002393.4:c.154-1899G>C | NP_002384.2:n.154-1899G>C | |
| XM_006711328.1:c.154-1899G>C | XP_006711391.1:n.154-1899G>C | |
| XM_011509565.1:c.154-1899G>C | XP_011507867.1:n.154-1899G>C | |
| XM_011509566.1:c.154-1899G>C | XP_011507868.1:n.154-1899G>C | |
| XM_011509567.1:c.154-1899G>C | XP_011507869.1:n.154-1899G>C | |
| XM_011509568.1:c.154-1899G>C | XP_011507870.1:n.154-1899G>C | |
| XM_017001311.1:c.208-1899G>C | XP_016856800.1:n.208-1899G>C | |
| XM_017001312.1:c.208-1899G>C | XP_016856801.1:n.208-1899G>C | |
| XM_017001313.1:c.208-1899G>C | XP_016856802.1:n.208-1899G>C | |
| XM_024447114.1:c.154-1899G>C | XP_024302882.1:n.154-1899G>C | |
| XM_024447115.1:c.154-1899G>C | XP_024302883.1:n.154-1899G>C | |
| XR_001737179.1:n.319-1899G>C | ||
| XR_001737180.2:n.319-1899G>C | ||
| XR_001737181.1:n.319-1899G>C | ||
| XR_001737182.1:n.319-1899G>C | ||
| XR_001737183.1:n.306-1899G>C | ||
| XR_002956626.1:n.319-1899G>C | ||
| NM_002393.5:c.154-1899G>C MANE Select | NP_002384.2:n.154-1899G>C | |
| NM_001204171.2:c.154-1899G>C | NP_001191100.1:n.154-1899G>C | |
| NM_001204172.2:c.78+3189G>C | NP_001191101.1:n.78+3189G>C | |
| NM_001278516.2:c.154-1899G>C | NP_001265445.1:n.154-1899G>C | |
| NM_001278517.2:c.78+3189G>C | NP_001265446.1:n.78+3189G>C | |
| NM_001278518.2:c.154-1899G>C | NP_001265447.1:n.154-1899G>C | |
| NM_001278519.2:c.153+2351G>C | NP_001265448.1:n.153+2351G>C |