Linked Data
dbSNP Id:
rs556205
gnomAD v2:
11-104898008-T-G
gnomAD v3:
11-105027281-T-G
gnomAD v4:
11-105027281-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.105027281T>G , CM000673.2:g.105027281T>G | GRCh38 |
| NC_000011.9:g.104898008T>G , CM000673.1:g.104898008T>G | GRCh37 |
| NC_000011.8:g.104403218T>G | NCBI36 |
| NG_029124.1:g.12850A>C | |
| NG_029124.2:g.12850A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525825.6:c.944-330A>C | ENSP00000434779.1:n.944-330A>C | |
| ENST00000532439.6:c.565-330A>C | ||
| ENST00000695714.1:c.*495-330A>C | ENSP00000512113.1:n.*495-330A>C | |
| ENST00000695715.1:c.890-330A>C | ENSP00000512114.1:n.890-330A>C | |
| ENST00000695716.1:c.*717-330A>C | ENSP00000512253.1:n.*717-330A>C | |
| ENST00000695717.1:c.890-330A>C | ENSP00000512115.1:n.890-330A>C | |
| ENST00000695718.1:c.890-330A>C | ENSP00000512116.1:n.890-330A>C | |
| ENST00000695719.1:c.944-330A>C | ENSP00000512117.1:n.944-330A>C | |
| ENST00000695720.1:c.1007-330A>C | ENSP00000512118.1:n.1007-330A>C | |
| ENST00000695721.1:c.890-330A>C | ENSP00000512119.1:n.890-330A>C | |
| ENST00000695722.1:c.890-330A>C | ENSP00000512120.1:n.890-330A>C | |
| ENST00000533400.6:c.1007-330A>C MANE Select | ENSP00000433138.1:n.1007-330A>C | |
| ENST00000353247.9:c.59-330A>C | ENSP00000344132.5:n.59-330A>C | |
| ENST00000436863.7:c.1007-330A>C | ENSP00000410076.3:n.1007-330A>C | |
| ENST00000446369.5:c.584-330A>C | ENSP00000403260.1:n.584-330A>C | |
| ENST00000525825.5:c.944-330A>C | ENSP00000434779.1:n.944-330A>C | |
| ENST00000526568.5:c.728-330A>C | ENSP00000434250.1:n.728-330A>C | |
| ENST00000527979.5:c.896-330A>C | ENSP00000432340.1:n.896-330A>C | |
| ENST00000528974.1:c.890-288A>C | ENSP00000434259.1:n.890-288A>C | |
| ENST00000529871.1:c.*495-330A>C | ENSP00000431947.1:n.*495-330A>C | |
| ENST00000531166.5:c.59-330A>C | ENSP00000434303.1:n.59-330A>C | |
| ENST00000532439.5:c.554-330A>C | ENSP00000435536.1:n.554-330A>C | |
| ENST00000533400.5:c.1007-330A>C | ENSP00000433138.1:n.1007-330A>C | |
| ENST00000534497.5:c.584-330A>C | ENSP00000436875.1:n.584-330A>C | |
| NM_001223.4:c.944-330A>C | NP_001214.1:n.944-330A>C | |
| NM_001257118.2:c.1007-330A>C | NP_001244047.1:n.1007-330A>C | |
| NM_001257119.2:c.944-330A>C | NP_001244048.1:n.944-330A>C | |
| NM_033292.3:c.1007-330A>C | NP_150634.1:n.1007-330A>C | |
| NM_033293.3:c.728-330A>C | NP_150635.1:n.728-330A>C | |
| NM_033294.3:c.584-330A>C | NP_150636.1:n.584-330A>C | |
| NM_033295.3:c.59-330A>C | NP_150637.1:n.59-330A>C | |
| XM_006718924.2:c.1139-330A>C | XP_006718987.2:n.1139-330A>C | |
| XM_011543017.1:c.1139-330A>C | XP_011541319.1:n.1139-330A>C | |
| XM_011543018.1:c.1076-330A>C | XP_011541320.1:n.1076-330A>C | |
| XM_017018393.1:c.998-330A>C | XP_016873882.1:n.998-330A>C | |
| XM_017018394.1:c.998-330A>C | XP_016873883.1:n.998-330A>C | |
| XM_017018395.1:c.935-330A>C | XP_016873884.1:n.935-330A>C | |
| XM_017018396.1:c.917-330A>C | XP_016873885.1:n.917-330A>C | |
| NM_001257118.3:c.1007-330A>C MANE Select | NP_001244047.1:n.1007-330A>C | |
| NM_001223.5:c.944-330A>C | NP_001214.1:n.944-330A>C | |
| NM_001257119.3:c.944-330A>C | NP_001244048.1:n.944-330A>C | |
| NM_033292.4:c.1007-330A>C | NP_150634.1:n.1007-330A>C | |
| NM_033293.4:c.728-330A>C | NP_150635.1:n.728-330A>C | |
| NM_033294.4:c.584-330A>C | NP_150636.1:n.584-330A>C | |
| NM_033295.4:c.59-330A>C | NP_150637.1:n.59-330A>C |