Linked Data
dbSNP Id:
rs267603154
ExAC:
11:68854621 C / T
gnomAD v2:
11-68854621-C-T
gnomAD v3:
11-69087153-C-T
gnomAD v4:
11-69087153-C-T
COSMIC:
COSM3452572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69087153C>T , CM000673.2:g.69087153C>T | GRCh38 |
| NC_000011.9:g.68854621C>T , CM000673.1:g.68854621C>T | GRCh37 |
| NC_000011.8:g.68611197C>T | NCBI36 |
| NG_016153.1:g.43272C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692585.1:c.984C>T | ENSP00000509200.1:p.Pro328= | |
| ENST00000294309.8:c.2127C>T MANE Select | ENSP00000294309.3:p.Pro709= | |
| ENST00000635811.1:c.*322C>T | ENSP00000490341.1:n.*322C>T | |
| ENST00000637084.1:c.984C>T | ENSP00000490615.1:p.Pro328= | |
| ENST00000637342.1:c.2003+1223C>T | ENSP00000490171.1:n.2003+1223C>T | |
| ENST00000637504.1:c.*33+1867C>T | ENSP00000489759.1:n.*33+1867C>T | |
| ENST00000294309.7:c.2127C>T | ENSP00000294309.3:p.Pro709= | |
| ENST00000442692.2:n.1593C>T | ||
| ENST00000542467.1:c.1581C>T | ENSP00000445551.1:p.Pro527= | |
| NM_139075.3:c.2127C>T | NP_620714.2:p.Pro709= | |
| XM_005273824.2:c.2124C>T | XP_005273881.1:p.Pro708= | |
| XM_005273826.2:c.1872C>T | XP_005273883.1:p.Pro624= | |
| XM_005273830.2:c.1434C>T | XP_005273887.1:p.Pro478= | |
| XM_005273831.2:c.1434C>T | XP_005273888.1:p.Pro478= | |
| XM_005273832.2:c.1404C>T | XP_005273889.1:p.Pro468= | |
| XM_006718453.2:c.1639+5654C>T | XP_006718516.1:n.1639+5654C>T | |
| XM_006718454.2:c.1689+5654C>T | XP_006718517.1:n.1689+5654C>T | |
| XM_011544802.1:c.1887C>T | XP_011543104.1:p.Pro629= | |
| XM_011544807.1:c.1431C>T | XP_011543109.1:p.Pro477= | |
| XM_011544808.1:c.1296C>T | XP_011543110.1:p.Pro432= | |
| XR_247191.1:n.2178C>T | ||
| XM_005273824.4:c.2124C>T | XP_005273881.1:p.Pro708= | |
| XM_005273826.4:c.1872C>T | XP_005273883.1:p.Pro624= | |
| XM_005273830.4:c.1434C>T | XP_005273887.1:p.Pro478= | |
| XM_005273831.4:c.1434C>T | XP_005273888.1:p.Pro478= | |
| XM_005273832.4:c.1404C>T | XP_005273889.1:p.Pro468= | |
| XM_011544802.3:c.1887C>T | XP_011543104.1:p.Pro629= | |
| XM_011544807.3:c.1431C>T | XP_011543109.1:p.Pro477= | |
| XM_011544808.3:c.1296C>T | XP_011543110.1:p.Pro432= | |
| XM_017017328.2:c.1908C>T | XP_016872817.1:p.Pro636= | |
| XM_017017329.2:c.1905C>T | XP_016872818.1:p.Pro635= | |
| XM_017017330.2:c.1404C>T | XP_016872819.1:p.Pro468= | |
| XM_017017331.2:c.1404C>T | XP_016872820.1:p.Pro468= | |
| XM_017017332.2:c.1218C>T | XP_016872821.1:p.Pro406= | |
| XM_017017333.2:c.1185C>T | XP_016872822.1:p.Pro395= | |
| XM_017017334.2:c.1185C>T | XP_016872823.1:p.Pro395= | |
| XM_017017335.2:c.1185C>T | XP_016872824.1:p.Pro395= | |
| XM_017017336.2:c.1077C>T | XP_016872825.1:p.Pro359= | |
| XM_024448392.1:c.1917C>T | XP_024304160.1:p.Pro639= | |
| XM_024448393.1:c.1404C>T | XP_024304161.1:p.Pro468= | |
| XR_001747789.2:n.2059C>T | ||
| XR_247191.3:n.2181C>T | ||
| NM_139075.4:c.2127C>T MANE Select | NP_620714.2:p.Pro709= |