COSMIC:
COSM453109 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42668681 (SAS)
Genomes Max Group AF
0.41847694 (NFE)
Exomes Max Group AF
0.42654153 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44220272C>T , CM000669.2:g.44220272C>T | GRCh38 |
| NC_000007.13:g.44259871C>T , CM000669.1:g.44259871C>T | GRCh37 |
| NC_000007.12:g.44226396C>T | NCBI36 |
| NG_029407.1:g.110360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433930.2:c.818G>A | ||
| ENST00000470984.6:c.1032G>A | ENSP00000514879.1:p.Pro344= | |
| ENST00000484972.6:n.1492G>A | ||
| ENST00000700233.1:c.1341G>A | ENSP00000514871.1:p.Pro447= | |
| ENST00000700234.1:c.402G>A | ||
| ENST00000700235.1:c.1476G>A | ENSP00000514874.1:p.Pro492= | |
| ENST00000700236.1:c.792G>A | ||
| ENST00000700237.1:c.1032G>A | ENSP00000514876.1:p.Pro344= | |
| ENST00000700238.1:c.960G>A | ENSP00000514877.1:p.Pro320= | |
| ENST00000700239.1:c.1288G>A | ||
| ENST00000700240.1:c.987G>A | ENSP00000514880.1:p.Pro329= | |
| ENST00000700241.1:c.1421G>A | ||
| ENST00000700283.1:c.1301G>A | ||
| ENST00000700284.1:c.*1648G>A | ENSP00000514917.1:n.*1648G>A | |
| ENST00000700285.1:c.1419G>A | ENSP00000514918.1:p.Pro473= | |
| ENST00000700286.1:n.1920G>A | ||
| ENST00000700287.1:c.1432G>A | ||
| ENST00000700288.1:c.954G>A | ENSP00000514920.1:p.Pro318= | |
| ENST00000700289.1:n.1164G>A | ||
| ENST00000700290.1:c.957G>A | ENSP00000514921.1:p.Pro319= | |
| ENST00000700291.1:c.1216G>A | ENSP00000514922.1:p.Asp406Asn | |
| ENST00000395749.7:c.1791G>A MANE Select | ENSP00000379098.2:p.Pro597= | |
| ENST00000258682.10:c.1344G>A | ENSP00000258682.6:p.Pro448= | |
| ENST00000346990.8:c.1140G>A | ENSP00000326518.5:p.Pro380= | |
| ENST00000347193.8:c.1269G>A | ENSP00000326544.6:p.Pro423= | |
| ENST00000350811.7:c.1419G>A | ENSP00000326375.5:p.Pro473= | |
| ENST00000353185.7:c.*212G>A | ENSP00000326600.4:n.*212G>A | |
| ENST00000353625.8:c.1230G>A | ENSP00000326427.5:p.Pro410= | |
| ENST00000358707.7:c.1302G>A | ENSP00000351542.3:p.Pro434= | |
| ENST00000395747.6:c.1347G>A | ENSP00000379096.2:p.Pro449= | |
| ENST00000395749.6:c.1791G>A | ENSP00000379098.2:p.Pro597= | |
| ENST00000425809.5:c.345G>A | ENSP00000410445.1:p.Pro115= | |
| ENST00000440254.6:c.1419G>A | ENSP00000397937.2:p.Pro473= | |
| ENST00000457475.5:c.1347G>A | ENSP00000390292.1:p.Pro449= | |
| ENST00000466584.5:n.246G>A | ||
| ENST00000489429.5:n.1875G>A | ||
| ENST00000497584.5:n.1670G>A | ||
| ENST00000523845.5:c.*1074G>A | ENSP00000428912.1:n.*1074G>A | |
| NM_001220.4:c.1791G>A | NP_001211.3:p.Pro597= | |
| NM_001293170.1:c.1419G>A | NP_001280099.1:p.Pro473= | |
| NM_172078.2:c.1419G>A | NP_742075.1:p.Pro473= | |
| NM_172079.2:c.1347G>A | NP_742076.1:p.Pro449= | |
| NM_172080.2:c.1344G>A | NP_742077.1:p.Pro448= | |
| NM_172081.2:c.1302G>A | NP_742078.1:p.Pro434= | |
| NM_172082.2:c.1269G>A | NP_742079.1:p.Pro423= | |
| NM_172083.2:c.1230G>A | NP_742080.1:p.Pro410= | |
| NM_172084.2:c.1140G>A | NP_742081.1:p.Pro380= | |
| XM_005249862.3:c.1374G>A | XP_005249919.1:p.Pro458= | |
| XM_005249864.3:c.1275G>A | XP_005249921.1:p.Pro425= | |
| XM_006715781.2:c.1671G>A | XP_006715844.1:p.Pro557= | |
| XM_006715784.2:c.1347G>A | XP_006715847.1:p.Pro449= | |
| XM_011515547.1:c.1920G>A | XP_011513849.1:p.Pro640= | |
| XM_011515548.1:c.1920G>A | XP_011513850.1:p.Pro640= | |
| XM_011515549.1:c.1875G>A | XP_011513851.1:p.Pro625= | |
| XM_011515550.1:c.1848G>A | XP_011513852.1:p.Pro616= | |
| XM_011515551.1:c.1848G>A | XP_011513853.1:p.Pro616= | |
| XM_011515552.1:c.1845G>A | XP_011513854.1:p.Pro615= | |
| XM_011515553.1:c.1806G>A | XP_011513855.1:p.Pro602= | |
| XM_011515554.1:c.1800G>A | XP_011513856.1:p.Pro600= | |
| XM_011515555.1:c.1791G>A | XP_011513857.1:p.Pro597= | |
| XM_011515556.1:c.1776G>A | XP_011513858.1:p.Pro592= | |
| XM_011515557.1:c.1773G>A | XP_011513859.1:p.Pro591= | |
| XM_011515559.1:c.1533G>A | XP_011513861.1:p.Pro511= | |
| XM_011515560.1:c.1533G>A | XP_011513862.1:p.Pro511= | |
| XM_011515559.2:c.1533G>A | XP_011513861.1:p.Pro511= | |
| XM_017012660.1:c.1803G>A | XP_016868149.1:p.Pro601= | |
| XM_017012661.1:c.1761G>A | XP_016868150.1:p.Pro587= | |
| XM_017012662.1:c.1602G>A | XP_016868151.1:p.Pro534= | |
| XM_017012663.2:c.1461G>A | XP_016868152.1:p.Pro487= | |
| XM_017012664.1:c.1299G>A | XP_016868153.1:p.Pro433= | |
| XM_017012665.1:c.1272G>A | XP_016868154.1:p.Pro424= | |
| XM_017012666.2:c.1032G>A | XP_016868155.1:p.Pro344= | |
| XM_017012667.2:c.987G>A | XP_016868156.1:p.Pro329= | |
| XM_017012668.2:c.960G>A | XP_016868157.1:p.Pro320= | |
| XM_017012669.2:c.960G>A | XP_016868158.1:p.Pro320= | |
| XM_017012670.2:c.915G>A | XP_016868159.1:p.Pro305= | |
| XM_024446945.1:c.1677G>A | XP_024302713.1:p.Pro559= | |
| XM_024446946.1:c.957G>A | XP_024302714.1:p.Pro319= | |
| NM_001220.5:c.1791G>A MANE Select | NP_001211.3:p.Pro597= | |
| NM_001293170.2:c.1419G>A | NP_001280099.1:p.Pro473= | |
| NM_172078.3:c.1419G>A | NP_742075.1:p.Pro473= | |
| NM_172080.3:c.1344G>A | NP_742077.1:p.Pro448= | |
| NM_172081.3:c.1302G>A | NP_742078.1:p.Pro434= | |
| NM_172082.3:c.1269G>A | NP_742079.1:p.Pro423= | |
| NM_172083.3:c.1230G>A | NP_742080.1:p.Pro410= | |
| NM_172084.3:c.1140G>A | NP_742081.1:p.Pro380= | |
| NM_172079.3:c.1347G>A | NP_742076.1:p.Pro449= |