Linked Data
dbSNP Id:
rs761544164
ExAC:
1:154562259 A / G
gnomAD v2:
1-154562259-A-G
gnomAD v4:
1-154589783-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154589783A>G , CM000663.2:g.154589783A>G | GRCh38 |
| NC_000001.10:g.154562259A>G , CM000663.1:g.154562259A>G | GRCh37 |
| NC_000001.9:g.152828883A>G | NCBI36 |
| NG_011844.1:g.43179T>C | |
| NG_011844.2:g.46778T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.2536T>C | ENSP00000497790.2:n.2536T>C | |
| ENST00000649724.2:c.2672T>C | ENSP00000497932.2:p.Met891Thr | |
| ENST00000680270.2:c.2525T>C | ENSP00000505532.2:p.Met842Thr | |
| ENST00000681056.2:c.2294T>C | ENSP00000506234.2:p.Met765Thr | |
| ENST00000368471.8:c.1757T>C | ENSP00000357456.3:p.Met586Thr | |
| ENST00000368474.9:c.2642T>C MANE Select | ENSP00000357459.4:p.Met881Thr | |
| ENST00000529168.2:c.2564T>C | ENSP00000431794.2:p.Met855Thr | |
| ENST00000647682.2:n.2627T>C | ||
| ENST00000648231.2:c.1757T>C | ENSP00000497555.1:p.Met586Thr | |
| ENST00000648311.1:c.1757T>C | ENSP00000498137.1:p.Met586Thr | |
| ENST00000648714.2:c.*117T>C | ENSP00000497434.2:n.*117T>C | |
| ENST00000649021.1:n.2678T>C | ||
| ENST00000649022.2:c.1757T>C | ENSP00000496896.2:p.Met586Thr | |
| ENST00000649042.1:c.1757T>C | ENSP00000497790.1:p.Met586Thr | |
| ENST00000649408.2:c.2642T>C | ENSP00000497386.2:p.Met881Thr | |
| ENST00000649724.1:c.1757T>C | ENSP00000497932.1:p.Met586Thr | |
| ENST00000649749.1:c.1757T>C | ENSP00000497210.1:p.Met586Thr | |
| ENST00000679375.1:c.*874T>C | ENSP00000505887.1:n.*874T>C | |
| ENST00000679465.1:n.3095T>C | ||
| ENST00000679805.1:n.2678T>C | ||
| ENST00000679899.1:c.1700T>C | ENSP00000505996.1:p.Met567Thr | |
| ENST00000680270.1:c.1757T>C | ENSP00000505532.1:p.Met586Thr | |
| ENST00000680305.1:c.2642T>C | ENSP00000506312.1:p.Met881Thr | |
| ENST00000681056.1:c.1757T>C | ENSP00000506234.1:p.Met586Thr | |
| ENST00000681235.1:c.*2164T>C | ENSP00000506606.1:n.*2164T>C | |
| ENST00000681429.1:n.1902T>C | ||
| ENST00000681683.1:c.1757T>C | ENSP00000506666.1:p.Met586Thr | |
| ENST00000681786.1:n.3095T>C | ||
| ENST00000681901.1:c.*2242T>C | ENSP00000504883.1:n.*2242T>C | |
| ENST00000368471.7:c.1757T>C | ENSP00000357456.3:p.Met586Thr | |
| ENST00000368474.8:c.2642T>C | ENSP00000357459.4:p.Met881Thr | |
| ENST00000529168.1:c.2549T>C | ENSP00000431794.1:p.Met850Thr | |
| NM_001025107.2:c.1757T>C | NP_001020278.1:p.Met586Thr | |
| NM_001111.4:c.2642T>C | NP_001102.2:p.Met881Thr | |
| NM_001193495.1:c.1757T>C | NP_001180424.1:p.Met586Thr | |
| NM_015840.3:c.2564T>C | NP_056655.2:p.Met855Thr | |
| NM_015841.3:c.2507T>C | NP_056656.2:p.Met836Thr | |
| XM_006711109.1:c.2672T>C | XP_006711172.1:p.Met891Thr | |
| XM_006711111.2:c.1757T>C | XP_006711174.1:p.Met586Thr | |
| XM_006711112.1:c.1757T>C | XP_006711175.1:p.Met586Thr | |
| XM_006711113.1:c.1757T>C | XP_006711176.1:p.Met586Thr | |
| XM_011509060.1:c.2771T>C | XP_011507362.1:p.Met924Thr | |
| XM_011509061.1:c.2693T>C | XP_011507363.1:p.Met898Thr | |
| XM_011509062.1:c.2660T>C | XP_011507364.1:p.Met887Thr | |
| NM_001025107.3:c.1757T>C | NP_001020278.1:p.Met586Thr | |
| NM_001111.5:c.2642T>C MANE Select | NP_001102.3:p.Met881Thr | |
| NM_001193495.2:c.1757T>C | NP_001180424.1:p.Met586Thr | |
| NM_001365045.1:c.2669T>C | NP_001351974.1:p.Met890Thr | |
| NM_001365046.1:c.1757T>C | NP_001351975.1:p.Met586Thr | |
| NM_001365047.1:c.1757T>C | NP_001351976.1:p.Met586Thr | |
| NM_001365048.1:c.1757T>C | NP_001351977.1:p.Met586Thr | |
| NM_001365049.1:c.1679T>C | NP_001351978.1:p.Met560Thr | |
| NM_015840.4:c.2564T>C | NP_056655.3:p.Met855Thr | |
| NM_015841.4:c.2507T>C | NP_056656.3:p.Met836Thr | |
| XM_006711113.2:c.1757T>C | XP_006711176.1:p.Met586Thr | |
| XM_011509061.2:c.1679T>C | XP_011507363.2:p.Met560Thr | |
| XM_024449674.1:c.2771T>C | XP_024305442.1:p.Met924Thr |