Linked Data
ClinVar Variation Id:
346714
dbSNP Id:
rs184958084
ExAC:
3:77693976 C / T
gnomAD v2:
3-77693976-C-T
gnomAD v3:
3-77644825-C-T
gnomAD v4:
3-77644825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.77644825C>T , CM000665.2:g.77644825C>T | GRCh38 |
| NC_000003.11:g.77693976C>T , CM000665.1:g.77693976C>T | GRCh37 |
| NC_000003.10:g.77776666C>T | NCBI36 |
| NG_027734.1:g.1743132C>T | |
| NG_027734.2:g.1743132C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332191.13:c.4251C>T | ENSP00000327536.9:p.Gly1417= | |
| ENST00000471893.2:c.4242C>T | ENSP00000418190.2:p.Gly1414= | |
| ENST00000475334.2:c.4137C>T | ENSP00000418446.2:p.Gly1379= | |
| ENST00000490534.2:c.4329C>T | ENSP00000417471.2:p.Gly1443= | |
| ENST00000696574.1:c.*999C>T | ENSP00000512729.1:n.*999C>T | |
| ENST00000696593.1:c.4341C>T MANE Select | ENSP00000512738.1:p.Gly1447= | |
| ENST00000696629.1:c.4242C>T | ENSP00000512766.1:p.Gly1414= | |
| ENST00000696630.1:c.4515C>T | ENSP00000512767.1:p.Gly1505= | |
| ENST00000696631.1:c.*2489C>T | ENSP00000512768.1:n.*2489C>T | |
| ENST00000705983.1:c.4182C>T | ENSP00000516193.1:p.Gly1394= | |
| ENST00000705984.1:c.597C>T | ENSP00000516194.1:p.Gly199= | |
| ENST00000332191.12:c.4239C>T | ENSP00000327536.8:p.Gly1413= | |
| ENST00000461745.5:c.4056C>T | ENSP00000417164.1:p.Gly1352= | |
| ENST00000470802.1:n.6044C>T | ||
| ENST00000473767.5:c.*2500C>T | ENSP00000418117.1:n.*2500C>T | |
| ENST00000475334.1:c.550C>T | ||
| ENST00000487694.7:c.4104C>T | ENSP00000417335.2:p.Gly1368= | |
| ENST00000490534.1:c.514C>T | ||
| ENST00000614793.4:c.3672C>T | ENSP00000480344.1:p.Gly1224= | |
| NM_001128929.3:c.4104C>T | NP_001122401.1:p.Gly1368= | |
| NM_001290039.1:c.4068C>T | NP_001276968.1:p.Gly1356= | |
| NM_001290040.1:c.4251C>T | NP_001276969.1:p.Gly1417= | |
| NM_001290065.1:c.2277C>T | NP_001276994.1:p.Gly759= | |
| NM_002942.4:c.4056C>T | NP_002933.1:p.Gly1352= | |
| XM_011533981.1:c.4719C>T | XP_011532283.1:p.Gly1573= | |
| XM_011533982.1:c.4593C>T | XP_011532284.1:p.Gly1531= | |
| XM_011533983.1:c.4536C>T | XP_011532285.1:p.Gly1512= | |
| XM_011533984.1:c.4263C>T | XP_011532286.1:p.Gly1421= | |
| XM_011533985.1:c.4137C>T | XP_011532287.1:p.Gly1379= | |
| XM_011533981.2:c.4719C>T | XP_011532283.1:p.Gly1573= | |
| XM_017006986.1:c.4650C>T | XP_016862475.1:p.Gly1550= | |
| XM_017006987.1:c.4584C>T | XP_016862476.1:p.Gly1528= | |
| XM_017006988.1:c.4536C>T | XP_016862477.1:p.Gly1512= | |
| XM_017006989.1:c.4524C>T | XP_016862478.1:p.Gly1508= | |
| XM_017006990.1:c.4515C>T | XP_016862479.1:p.Gly1505= | |
| XM_017006991.1:c.4410C>T | XP_016862480.1:p.Gly1470= | |
| XM_017006992.1:c.4389C>T | XP_016862481.1:p.Gly1463= | |
| XM_017006993.1:c.4329C>T | XP_016862482.1:p.Gly1443= | |
| XM_017006994.1:c.4263C>T | XP_016862483.1:p.Gly1421= | |
| XM_017006995.1:c.4254C>T | XP_016862484.1:p.Gly1418= | |
| XM_017006996.1:c.4242C>T | XP_016862485.1:p.Gly1414= | |
| XM_017006997.1:c.4242C>T | XP_016862486.1:p.Gly1414= | |
| XM_017006998.1:c.4194C>T | XP_016862487.1:p.Gly1398= | |
| XM_017006999.1:c.4194C>T | XP_016862488.1:p.Gly1398= | |
| XM_017007000.1:c.4182C>T | XP_016862489.1:p.Gly1394= | |
| XM_017007001.1:c.4137C>T | XP_016862490.1:p.Gly1379= | |
| XM_017007002.1:c.4128C>T | XP_016862491.1:p.Gly1376= | |
| XM_017007003.1:c.4125C>T | XP_016862492.1:p.Gly1375= | |
| XM_017007004.1:c.4116C>T | XP_016862493.1:p.Gly1372= | |
| XM_017007005.1:c.4116C>T | XP_016862494.1:p.Gly1372= | |
| XM_017007006.1:c.4059C>T | XP_016862495.1:p.Gly1353= | |
| NM_001290039.2:c.4068C>T | NP_001276968.1:p.Gly1356= | |
| NM_001290040.2:c.4251C>T | NP_001276969.1:p.Gly1417= | |
| NM_001290065.2:c.2277C>T | NP_001276994.1:p.Gly759= | |
| NM_002942.5:c.4056C>T | NP_002933.1:p.Gly1352= | |
| NM_001378190.1:c.4389C>T | NP_001365119.1:p.Gly1463= | |
| NM_001378191.1:c.4515C>T | NP_001365120.1:p.Gly1505= | |
| NM_001378192.1:c.4410C>T | NP_001365121.1:p.Gly1470= | |
| NM_001378193.1:c.4329C>T | NP_001365122.1:p.Gly1443= | |
| NM_001378194.1:c.4254C>T | NP_001365123.1:p.Gly1418= | |
| NM_001378195.1:c.4242C>T | NP_001365124.1:p.Gly1414= | |
| NM_001378196.1:c.4242C>T | NP_001365125.1:p.Gly1414= | |
| NM_001378197.1:c.4182C>T | NP_001365126.1:p.Gly1394= | |
| NM_001378198.1:c.4137C>T | NP_001365127.1:p.Gly1379= | |
| NM_001378199.1:c.4137C>T | NP_001365128.1:p.Gly1379= | |
| NM_001378200.1:c.4116C>T | NP_001365129.1:p.Gly1372= | |
| NM_001378201.1:c.4116C>T | NP_001365130.1:p.Gly1372= | |
| NM_001378202.1:c.4059C>T | NP_001365131.1:p.Gly1353= | |
| NM_001378203.1:c.3942C>T | NP_001365132.1:p.Gly1314= | |
| NM_001394212.1:c.4524C>T | NP_001381141.1:p.Gly1508= | |
| NM_001394213.1:c.4263C>T | NP_001381142.1:p.Gly1421= | |
| NM_001394214.1:c.4125C>T | NP_001381143.1:p.Gly1375= | |
| NM_001395656.1:c.4341C>T MANE Select | NP_001382585.1:p.Gly1447= | |
| NM_001395657.1:c.4251C>T | NP_001382586.1:p.Gly1417= |