Linked Data
dbSNP Id:
rs320320
gnomAD v2:
1-243835186-A-G
gnomAD v3:
1-243671884-A-G
gnomAD v4:
1-243671884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243671884A>G , CM000663.2:g.243671884A>G | GRCh38 |
| NC_000001.10:g.243835186A>G , CM000663.1:g.243835186A>G | GRCh37 |
| NC_000001.9:g.241901809A>G | NCBI36 |
| NG_029764.1:g.176701T>C | |
| NG_029764.2:g.184196T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263826.12:c.173-7001T>C | ENSP00000263826.5:n.173-7001T>C | |
| ENST00000366539.6:c.173-7001T>C | ENSP00000355497.2:n.173-7001T>C | |
| ENST00000492957.2:c.173-7001T>C | ENSP00000506695.1:n.173-7001T>C | |
| ENST00000552631.2:n.287-7001T>C | ||
| ENST00000672238.1:c.173-7001T>C | ENSP00000506535.1:n.173-7001T>C | |
| ENST00000672442.1:c.*2-7001T>C | ENSP00000500134.1:n.*2-7001T>C | |
| ENST00000672578.1:c.-11-7001T>C | ENSP00000500597.1:n.-11-7001T>C | |
| ENST00000672679.1:n.130-7001T>C | ||
| ENST00000673466.1:c.173-7001T>C MANE Select | ENSP00000500582.1:n.173-7001T>C | |
| ENST00000680056.1:c.47-7001T>C | ENSP00000505337.1:n.47-7001T>C | |
| ENST00000680118.1:c.173-7001T>C | ENSP00000505276.1:n.173-7001T>C | |
| ENST00000681794.1:c.173-7001T>C | ENSP00000506399.1:n.173-7001T>C | |
| ENST00000263826.9:c.173-7001T>C | ENSP00000263826.5:n.173-7001T>C | |
| ENST00000336199.9:c.173-7001T>C | ENSP00000336943.5:n.173-7001T>C | |
| ENST00000366539.5:c.173-7001T>C | ENSP00000355497.1:n.173-7001T>C | |
| ENST00000366540.5:c.173-7001T>C | ENSP00000355498.1:n.173-7001T>C | |
| ENST00000463991.5:n.311-7001T>C | ||
| ENST00000552631.1:c.173-7001T>C | ENSP00000447820.1:n.173-7001T>C | |
| NM_001206729.1:c.173-7001T>C | NP_001193658.1:n.173-7001T>C | |
| NM_005465.4:c.173-7001T>C | NP_005456.1:n.173-7001T>C | |
| NM_181690.2:c.173-7001T>C | NP_859029.1:n.173-7001T>C | |
| XM_005272994.3:c.173-7001T>C | XP_005273051.1:n.173-7001T>C | |
| XM_005272995.2:c.173-7001T>C | XP_005273052.1:n.173-7001T>C | |
| XM_005272997.3:c.-11-7001T>C | XP_005273054.1:n.-11-7001T>C | |
| XM_006711726.2:c.173-7001T>C | XP_006711789.1:n.173-7001T>C | |
| XM_011544011.1:c.47-7001T>C | XP_011542313.1:n.47-7001T>C | |
| XM_011544012.1:c.173-7001T>C | XP_011542314.1:n.173-7001T>C | |
| XM_011544013.1:c.173-7001T>C | XP_011542315.1:n.173-7001T>C | |
| XM_016999985.1:c.-11-7001T>C | XP_016855474.1:n.-11-7001T>C | |
| XM_024446000.1:c.173-7001T>C | XP_024301768.1:n.173-7001T>C | |
| XM_024446892.1:c.173-7001T>C | XP_024302660.1:n.173-7001T>C | |
| XM_024447938.1:c.173-7001T>C | XP_024303706.1:n.173-7001T>C | |
| NM_005465.5:c.173-7001T>C | NP_005456.1:n.173-7001T>C | |
| NM_001370074.1:c.173-7001T>C | NP_001357003.1:n.173-7001T>C | |
| NM_005465.7:c.173-7001T>C MANE Select | NP_005456.1:n.173-7001T>C | |
| NM_001206729.2:c.173-7001T>C | NP_001193658.1:n.173-7001T>C |