Linked Data
ClinVar Variation Id:
261073
dbSNP Id:
rs12828016
ExAC:
12:998365 G / T
gnomAD v2:
12-998365-G-T
gnomAD v3:
12-889199-G-T
gnomAD v4:
12-889199-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.889199G>T , CM000674.2:g.889199G>T | GRCh38 |
| NC_000012.11:g.998365G>T , CM000674.1:g.998365G>T | GRCh37 |
| NC_000012.10:g.868626G>T | NCBI36 |
| NG_007984.2:g.141141G>T | |
| NG_007984.3:g.141141G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315939.11:c.5424G>T MANE Select | ENSP00000313059.6:p.Met1808Ile | |
| ENST00000340908.9:c.6180G>T MANE Plus Clinical | ENSP00000341292.5:p.Met2060Ile | |
| ENST00000675631.1:c.4203G>T | ENSP00000502415.1:p.Met1401Ile | |
| ENST00000676347.1:c.2871G>T | ENSP00000501875.1:p.Met957Ile | |
| ENST00000315939.10:c.5424G>T | ENSP00000313059.6:p.Met1808Ile | |
| ENST00000340908.8:c.6180G>T | ENSP00000341292.5:p.Met2060Ile | |
| ENST00000530271.6:c.6663G>T | ENSP00000433548.3:p.Met2221Ile | |
| ENST00000535572.5:c.4683G>T | ENSP00000441972.1:p.Met1561Ile | |
| ENST00000537687.5:c.6204G>T | ENSP00000444465.1:p.Met2068Ile | |
| NM_001184985.1:c.6204G>T | NP_001171914.1:p.Met2068Ile | |
| NM_014823.2:c.4683G>T | NP_055638.2:p.Met1561Ile | |
| NM_018979.3:c.5424G>T | NP_061852.3:p.Met1808Ile | |
| NM_213655.4:c.6180G>T | NP_998820.3:p.Met2060Ile | |
| XM_006719003.1:c.5421G>T | XP_006719066.1:p.Met1807Ile | |
| XM_011520997.1:c.6663G>T | XP_011519299.1:p.Met2221Ile | |
| XM_011520998.1:c.6660G>T | XP_011519300.1:p.Met2220Ile | |
| XM_011520999.1:c.6663G>T | XP_011519301.1:p.Met2221Ile | |
| XM_011521000.1:c.6663G>T | XP_011519302.1:p.Met2221Ile | |
| XM_011521001.1:c.6384G>T | XP_011519303.1:p.Met2128Ile | |
| XM_011521002.1:c.6201G>T | XP_011519304.1:p.Met2067Ile | |
| XM_011521003.1:c.5925G>T | XP_011519305.1:p.Met1975Ile | |
| XM_011521004.1:c.5922G>T | XP_011519306.1:p.Met1974Ile | |
| XM_011521005.1:c.5442G>T | XP_011519307.1:p.Met1814Ile | |
| XM_011521006.1:c.5340G>T | XP_011519308.1:p.Met1780Ile | |
| XM_011521007.1:c.5337G>T | XP_011519309.1:p.Met1779Ile | |
| XM_011521008.1:c.4602G>T | XP_011519310.1:p.Met1534Ile | |
| XM_011521009.1:c.4599G>T | XP_011519311.1:p.Met1533Ile | |
| XM_006719003.2:c.5421G>T | XP_006719066.1:p.Met1807Ile | |
| XM_011520997.3:c.6663G>T | XP_011519299.1:p.Met2221Ile | |
| XM_011520998.2:c.6660G>T | XP_011519300.1:p.Met2220Ile | |
| XM_011520999.2:c.6663G>T | XP_011519301.1:p.Met2221Ile | |
| XM_011521000.2:c.6663G>T | XP_011519302.1:p.Met2221Ile | |
| XM_011521001.2:c.6384G>T | XP_011519303.1:p.Met2128Ile | |
| XM_011521002.2:c.6201G>T | XP_011519304.1:p.Met2067Ile | |
| XM_011521003.2:c.5925G>T | XP_011519305.1:p.Met1975Ile | |
| XM_011521004.2:c.5922G>T | XP_011519306.1:p.Met1974Ile | |
| XM_011521005.2:c.5442G>T | XP_011519307.1:p.Met1814Ile | |
| XM_011521006.2:c.5340G>T | XP_011519308.1:p.Met1780Ile | |
| XM_011521007.2:c.5337G>T | XP_011519309.1:p.Met1779Ile | |
| XM_011521008.2:c.4602G>T | XP_011519310.1:p.Met1534Ile | |
| XM_011521009.2:c.4599G>T | XP_011519311.1:p.Met1533Ile | |
| XM_017019834.1:c.4962G>T | XP_016875323.1:p.Met1654Ile | |
| XM_017019835.1:c.4881G>T | XP_016875324.1:p.Met1627Ile | |
| XM_017019836.1:c.4878G>T | XP_016875325.1:p.Met1626Ile | |
| XM_017019837.1:c.4686G>T | XP_016875326.1:p.Met1562Ile | |
| XM_017019838.1:c.4683G>T | XP_016875327.1:p.Met1561Ile | |
| XM_017019839.1:c.4602G>T | XP_016875328.1:p.Met1534Ile | |
| NM_018979.4:c.5424G>T MANE Select | NP_061852.3:p.Met1808Ile | |
| NM_014823.3:c.4683G>T | NP_055638.2:p.Met1561Ile | |
| NM_001184985.2:c.6204G>T | NP_001171914.1:p.Met2068Ile | |
| NM_213655.5:c.6180G>T MANE Plus Clinical | NP_998820.3:p.Met2060Ile |