Linked Data
dbSNP Id:
rs1934620
gnomAD v2:
1-210898263-A-G
gnomAD v3:
1-210724921-A-G
gnomAD v4:
1-210724921-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210724921A>G , CM000663.2:g.210724921A>G | GRCh38 |
| NC_000001.10:g.210898263A>G , CM000663.1:g.210898263A>G | GRCh37 |
| NC_000001.9:g.208964886A>G | NCBI36 |
| NG_029777.1:g.414195T>C | |
| NG_029777.2:g.414195T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271751.10:c.2113-40783T>C MANE Select | ENSP00000271751.4:n.2113-40783T>C | |
| ENST00000367007.5:c.2032-40783T>C | ENSP00000355974.5:n.2032-40783T>C | |
| ENST00000638357.1:c.1249-40783T>C | ||
| ENST00000638498.1:c.2113-40783T>C | ENSP00000490983.1:n.2113-40783T>C | |
| ENST00000638960.1:c.2032-40783T>C | ENSP00000492302.1:n.2032-40783T>C | |
| ENST00000639952.1:c.2032-40783T>C | ENSP00000492697.1:n.2032-40783T>C | |
| ENST00000640044.1:c.961-40783T>C | ENSP00000491434.1:n.961-40783T>C | |
| ENST00000640243.1:c.*618-40783T>C | ENSP00000492803.1:n.*618-40783T>C | |
| ENST00000640528.1:c.2032-40783T>C | ENSP00000491725.1:n.2032-40783T>C | |
| ENST00000640566.1:c.508-40783T>C | ENSP00000491302.1:n.508-40783T>C | |
| ENST00000640710.1:c.2032-40783T>C | ENSP00000492513.1:n.2032-40783T>C | |
| ENST00000271751.8:c.2113-40783T>C | ENSP00000271751.4:n.2113-40783T>C | |
| ENST00000367007.4:c.2032-40783T>C | ENSP00000355974.4:n.2032-40783T>C | |
| NM_002238.3:c.2032-40783T>C | NP_002229.1:n.2032-40783T>C | |
| NM_172362.2:c.2113-40783T>C | NP_758872.1:n.2113-40783T>C | |
| XM_011509514.1:c.937-40783T>C | XP_011507816.1:n.937-40783T>C | |
| XR_922550.1:n.304+14234A>G | ||
| XR_922551.1:n.68+14234A>G | ||
| XM_017001246.1:c.937-40783T>C | XP_016856735.1:n.937-40783T>C | |
| XR_001738445.1:n.327+14234A>G | ||
| XR_922550.2:n.327+14234A>G | ||
| NM_172362.3:c.2113-40783T>C MANE Select | NP_758872.1:n.2113-40783T>C | |
| NM_002238.4:c.2032-40783T>C | NP_002229.1:n.2032-40783T>C |