Linked Data
dbSNP Id:
rs1277389988
gnomAD v2:
14-89077278-A-C
gnomAD v3:
14-88610934-A-C
gnomAD v4:
14-88610934-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610934A>C , CM000676.2:g.88610934A>C | GRCh38 |
| NC_000014.8:g.89077278A>C , CM000676.1:g.89077278A>C | GRCh37 |
| NC_000014.7:g.88147031A>C | NCBI36 |
| NG_050601.1:g.53026A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2198A>C MANE Select | ENSP00000251038.5:p.Gln733Pro | |
| ENST00000649731.1:c.*1406A>C | ENSP00000497757.1:n.*1406A>C | |
| ENST00000251038.9:c.2198A>C | ENSP00000251038.5:p.Gln733Pro | |
| ENST00000302216.12:c.1727A>C | ENSP00000307025.8:p.Gln576Pro | |
| ENST00000318308.10:c.908A>C | ENSP00000327176.6:p.Gln303Pro | |
| ENST00000336693.8:c.1703A>C | ENSP00000338002.4:p.Gln568Pro | |
| ENST00000393514.9:c.2123A>C | ENSP00000377150.5:p.Gln708Pro | |
| ENST00000406216.7:c.836A>C | ENSP00000384682.3:p.Gln279Pro | |
| ENST00000554020.5:n.1041A>C | ||
| ENST00000555755.5:c.2180A>C | ENSP00000452475.1:p.Gln727Pro | |
| ENST00000555792.1:c.443A>C | ENSP00000450823.1:p.Gln148Pro | |
| ENST00000555851.6:n.357A>C | ||
| ENST00000555900.5:c.1304A>C | ENSP00000451530.1:p.Gln435Pro | |
| ENST00000556000.5:c.1942A>C | ||
| ENST00000556945.5:c.1805A>C | ENSP00000450474.1:p.Gln602Pro | |
| ENST00000557491.1:n.1483A>C | ||
| ENST00000557607.5:c.1250A>C | ENSP00000452370.1:p.Gln417Pro | |
| NM_001160103.1:c.2195A>C | NP_001153575.1:p.Gln732Pro | |
| NM_001160104.1:c.2180A>C | NP_001153576.1:p.Gln727Pro | |
| NM_024824.4:c.2198A>C | NP_079100.2:p.Gln733Pro | |
| NM_207660.3:c.1727A>C | NP_997543.1:p.Gln576Pro | |
| NM_207661.2:c.1703A>C | NP_997544.1:p.Gln568Pro | |
| NM_207662.3:c.908A>C | NP_997545.2:p.Gln303Pro | |
| XM_005268067.3:c.2183A>C | XP_005268124.1:p.Gln728Pro | |
| XM_005268068.3:c.2123A>C | XP_005268125.1:p.Gln708Pro | |
| XM_005268069.3:c.1805A>C | XP_005268126.1:p.Gln602Pro | |
| XM_005268070.3:c.1802A>C | XP_005268127.1:p.Gln601Pro | |
| XM_005268071.3:c.1730A>C | XP_005268128.1:p.Gln577Pro | |
| XM_005268073.3:c.1304A>C | XP_005268130.1:p.Gln435Pro | |
| XM_006720257.2:c.1229A>C | XP_006720320.1:p.Gln410Pro | |
| XM_011537160.1:c.2096A>C | XP_011535462.1:p.Gln699Pro | |
| XM_011537161.1:c.2042A>C | XP_011535463.1:p.Gln681Pro | |
| NM_001326295.1:c.1805A>C | NP_001313224.1:p.Gln602Pro | |
| NM_001326296.1:c.2120A>C | NP_001313225.1:p.Gln707Pro | |
| NM_001326297.1:c.2096A>C | NP_001313226.1:p.Gln699Pro | |
| NM_001326298.1:c.1730A>C | NP_001313227.1:p.Gln577Pro | |
| NM_001326299.1:c.2105A>C | NP_001313228.1:p.Gln702Pro | |
| NM_001326300.1:c.1733A>C | NP_001313229.1:p.Gln578Pro | |
| NM_001326301.1:c.2021A>C | NP_001313230.1:p.Gln674Pro | |
| NM_001326302.1:c.1730A>C | NP_001313231.1:p.Gln577Pro | |
| NM_001326303.1:c.1625A>C | NP_001313232.1:p.Gln542Pro | |
| NM_001326304.1:c.1337A>C | NP_001313233.1:p.Gln446Pro | |
| NM_001326305.1:c.1658A>C | NP_001313234.1:p.Gln553Pro | |
| NM_001326306.1:c.1571A>C | NP_001313235.1:p.Gln524Pro | |
| NM_001326307.1:c.2123A>C | NP_001313236.1:p.Gln708Pro | |
| NM_001326308.1:c.1340A>C | NP_001313237.1:p.Gln447Pro | |
| NM_001326309.1:c.1265A>C | NP_001313238.1:p.Gln422Pro | |
| NM_001326310.1:c.2183A>C | NP_001313239.1:p.Gln728Pro | |
| NM_001326311.1:c.1262A>C | NP_001313240.1:p.Gln421Pro | |
| NM_001326312.1:c.2108A>C | NP_001313241.1:p.Gln703Pro | |
| NM_001326313.1:c.1574A>C | NP_001313242.1:p.Gln525Pro | |
| NM_001326314.1:c.1655A>C | NP_001313243.1:p.Gln552Pro | |
| NM_001326315.1:c.2093A>C | NP_001313244.1:p.Gln698Pro | |
| NM_001326316.1:c.2093A>C | NP_001313245.1:p.Gln698Pro | |
| NR_136936.1:n.2263A>C | ||
| XM_005268070.5:c.1802A>C | XP_005268127.1:p.Gln601Pro | |
| XM_005268073.4:c.1304A>C | XP_005268130.1:p.Gln435Pro | |
| XM_006720257.3:c.1229A>C | XP_006720320.1:p.Gln410Pro | |
| XM_011537161.3:c.2042A>C | XP_011535463.1:p.Gln681Pro | |
| XM_024449713.1:c.1226A>C | XP_024305481.1:p.Gln409Pro | |
| NM_024824.5:c.2198A>C MANE Select | NP_079100.2:p.Gln733Pro | |
| NM_001160103.2:c.2195A>C | NP_001153575.1:p.Gln732Pro | |
| NM_001160104.2:c.2180A>C | NP_001153576.1:p.Gln727Pro | |
| NM_001326295.2:c.1805A>C | NP_001313224.1:p.Gln602Pro | |
| NM_001326296.2:c.2120A>C | NP_001313225.1:p.Gln707Pro | |
| NM_001326297.2:c.2096A>C | NP_001313226.1:p.Gln699Pro | |
| NM_001326298.2:c.1730A>C | NP_001313227.1:p.Gln577Pro | |
| NM_001326299.2:c.2105A>C | NP_001313228.1:p.Gln702Pro | |
| NM_001326300.2:c.1733A>C | NP_001313229.1:p.Gln578Pro | |
| NM_001326301.2:c.2021A>C | NP_001313230.1:p.Gln674Pro | |
| NM_001326302.2:c.1730A>C | NP_001313231.1:p.Gln577Pro | |
| NM_001326303.2:c.1625A>C | NP_001313232.1:p.Gln542Pro | |
| NM_001326304.2:c.1337A>C | NP_001313233.1:p.Gln446Pro | |
| NM_001326305.2:c.1658A>C | NP_001313234.1:p.Gln553Pro | |
| NM_001326306.2:c.1571A>C | NP_001313235.1:p.Gln524Pro | |
| NM_001326307.2:c.2123A>C | NP_001313236.1:p.Gln708Pro | |
| NM_001326308.2:c.1340A>C | NP_001313237.1:p.Gln447Pro | |
| NM_001326309.2:c.1265A>C | NP_001313238.1:p.Gln422Pro | |
| NM_001326310.2:c.2183A>C | NP_001313239.1:p.Gln728Pro | |
| NM_001326311.2:c.1262A>C | NP_001313240.1:p.Gln421Pro | |
| NM_001326312.2:c.2108A>C | NP_001313241.1:p.Gln703Pro | |
| NM_001326313.2:c.1574A>C | NP_001313242.1:p.Gln525Pro | |
| NM_001326314.2:c.1655A>C | NP_001313243.1:p.Gln552Pro | |
| NM_001326315.2:c.2093A>C | NP_001313244.1:p.Gln698Pro | |
| NM_207660.4:c.1727A>C | NP_997543.1:p.Gln576Pro | |
| NM_207662.4:c.908A>C | NP_997545.2:p.Gln303Pro | |
| NR_136936.2:n.2135A>C | ||
| NM_001326316.2:c.2093A>C | NP_001313245.1:p.Gln698Pro | |
| NM_207661.3:c.1703A>C | NP_997544.1:p.Gln568Pro |