Linked Data
ClinVar Variation Id:
7103
dbSNP Id:
rs267607014
ExAC:
3:77645881 T / C
gnomAD v2:
3-77645881-T-C
gnomAD v4:
3-77596730-T-C
PubMed:
PMID:17357069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.77596730T>C , CM000665.2:g.77596730T>C | GRCh38 |
| NC_000003.11:g.77645881T>C , CM000665.1:g.77645881T>C | GRCh37 |
| NC_000003.10:g.77728571T>C | NCBI36 |
| NG_027734.1:g.1695037T>C | |
| NG_027734.2:g.1695037T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332191.13:c.2846T>C | ENSP00000327536.9:p.Ile949Thr | |
| ENST00000471893.2:c.2894T>C | ENSP00000418190.2:p.Ile965Thr | |
| ENST00000475334.2:c.2915T>C | ENSP00000418446.2:p.Ile972Thr | |
| ENST00000490534.2:c.2834T>C | ENSP00000417471.2:p.Ile945Thr | |
| ENST00000696574.1:c.2846T>C | ENSP00000512729.1:p.Ile949Thr | |
| ENST00000696593.1:c.2846T>C MANE Select | ENSP00000512738.1:p.Ile949Thr | |
| ENST00000696629.1:c.2894T>C | ENSP00000512766.1:p.Ile965Thr | |
| ENST00000696630.1:c.2894T>C | ENSP00000512767.1:p.Ile965Thr | |
| ENST00000696631.1:c.*1141T>C | ENSP00000512768.1:n.*1141T>C | |
| ENST00000705983.1:c.2834T>C | ENSP00000516193.1:p.Ile945Thr | |
| ENST00000332191.12:c.2834T>C | ENSP00000327536.8:p.Ile945Thr | |
| ENST00000461745.5:c.2834T>C | ENSP00000417164.1:p.Ile945Thr | |
| ENST00000471893.1:c.57T>C | ||
| ENST00000473767.5:c.*1278T>C | ENSP00000418117.1:n.*1278T>C | |
| ENST00000487694.7:c.2882T>C | ENSP00000417335.2:p.Ile961Thr | |
| ENST00000490991.5:c.304T>C | ||
| ENST00000602589.5:c.2894T>C | ENSP00000473268.1:p.Ile965Thr | |
| ENST00000614793.4:c.2450T>C | ENSP00000480344.1:p.Ile817Thr | |
| NM_001128929.3:c.2882T>C | NP_001122401.1:p.Ile961Thr | |
| NM_001290039.1:c.2846T>C | NP_001276968.1:p.Ile949Thr | |
| NM_001290040.1:c.2846T>C | NP_001276969.1:p.Ile949Thr | |
| NM_001290065.1:c.1055T>C | NP_001276994.1:p.Ile352Thr | |
| NM_002942.4:c.2834T>C | NP_002933.1:p.Ile945Thr | |
| XM_011533981.1:c.2915T>C | XP_011532283.1:p.Ile972Thr | |
| XM_011533982.1:c.2915T>C | XP_011532284.1:p.Ile972Thr | |
| XM_011533983.1:c.2915T>C | XP_011532285.1:p.Ile972Thr | |
| XM_011533984.1:c.2915T>C | XP_011532286.1:p.Ile972Thr | |
| XM_011533985.1:c.2915T>C | XP_011532287.1:p.Ile972Thr | |
| XM_011533981.2:c.2915T>C | XP_011532283.1:p.Ile972Thr | |
| XM_017006986.1:c.2846T>C | XP_016862475.1:p.Ile949Thr | |
| XM_017006987.1:c.2915T>C | XP_016862476.1:p.Ile972Thr | |
| XM_017006988.1:c.2915T>C | XP_016862477.1:p.Ile972Thr | |
| XM_017006989.1:c.2903T>C | XP_016862478.1:p.Ile968Thr | |
| XM_017006990.1:c.2894T>C | XP_016862479.1:p.Ile965Thr | |
| XM_017006991.1:c.2915T>C | XP_016862480.1:p.Ile972Thr | |
| XM_017006992.1:c.2894T>C | XP_016862481.1:p.Ile965Thr | |
| XM_017006993.1:c.2834T>C | XP_016862482.1:p.Ile945Thr | |
| XM_017006994.1:c.2915T>C | XP_016862483.1:p.Ile972Thr | |
| XM_017006995.1:c.2915T>C | XP_016862484.1:p.Ile972Thr | |
| XM_017006996.1:c.2894T>C | XP_016862485.1:p.Ile965Thr | |
| XM_017006997.1:c.2894T>C | XP_016862486.1:p.Ile965Thr | |
| XM_017006998.1:c.2846T>C | XP_016862487.1:p.Ile949Thr | |
| XM_017006999.1:c.2846T>C | XP_016862488.1:p.Ile949Thr | |
| XM_017007000.1:c.2834T>C | XP_016862489.1:p.Ile945Thr | |
| XM_017007001.1:c.2915T>C | XP_016862490.1:p.Ile972Thr | |
| XM_017007002.1:c.2915T>C | XP_016862491.1:p.Ile972Thr | |
| XM_017007003.1:c.2903T>C | XP_016862492.1:p.Ile968Thr | |
| XM_017007004.1:c.2894T>C | XP_016862493.1:p.Ile965Thr | |
| XM_017007005.1:c.2894T>C | XP_016862494.1:p.Ile965Thr | |
| XM_017007006.1:c.2846T>C | XP_016862495.1:p.Ile949Thr | |
| NM_001290039.2:c.2846T>C | NP_001276968.1:p.Ile949Thr | |
| NM_001290040.2:c.2846T>C | NP_001276969.1:p.Ile949Thr | |
| NM_001290065.2:c.1055T>C | NP_001276994.1:p.Ile352Thr | |
| NM_002942.5:c.2834T>C | NP_002933.1:p.Ile945Thr | |
| NM_001378190.1:c.2894T>C | NP_001365119.1:p.Ile965Thr | |
| NM_001378191.1:c.2894T>C | NP_001365120.1:p.Ile965Thr | |
| NM_001378192.1:c.2915T>C | NP_001365121.1:p.Ile972Thr | |
| NM_001378193.1:c.2834T>C | NP_001365122.1:p.Ile945Thr | |
| NM_001378194.1:c.2915T>C | NP_001365123.1:p.Ile972Thr | |
| NM_001378195.1:c.2894T>C | NP_001365124.1:p.Ile965Thr | |
| NM_001378196.1:c.2894T>C | NP_001365125.1:p.Ile965Thr | |
| NM_001378197.1:c.2834T>C | NP_001365126.1:p.Ile945Thr | |
| NM_001378198.1:c.2915T>C | NP_001365127.1:p.Ile972Thr | |
| NM_001378199.1:c.2915T>C | NP_001365128.1:p.Ile972Thr | |
| NM_001378200.1:c.2894T>C | NP_001365129.1:p.Ile965Thr | |
| NM_001378201.1:c.2894T>C | NP_001365130.1:p.Ile965Thr | |
| NM_001378202.1:c.2846T>C | NP_001365131.1:p.Ile949Thr | |
| NM_001378203.1:c.2894T>C | NP_001365132.1:p.Ile965Thr | |
| NM_001394212.1:c.2903T>C | NP_001381141.1:p.Ile968Thr | |
| NM_001394213.1:c.2915T>C | NP_001381142.1:p.Ile972Thr | |
| NM_001394214.1:c.2903T>C | NP_001381143.1:p.Ile968Thr | |
| NM_001395656.1:c.2846T>C MANE Select | NP_001382585.1:p.Ile949Thr | |
| NM_001395657.1:c.2903T>C | NP_001382586.1:p.Ile968Thr |