Linked Data
dbSNP Id:
rs754259065
ExAC:
2:26690339 T / G
gnomAD v2:
2-26690339-T-G
gnomAD v4:
2-26467471-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467471T>G , CM000664.2:g.26467471T>G | GRCh38 |
| NC_000002.11:g.26690339T>G , CM000664.1:g.26690339T>G | GRCh37 |
| NC_000002.10:g.26543843T>G | NCBI36 |
| NG_009937.1:g.96228A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4121A>C MANE Select | ENSP00000272371.2:p.Lys1374Thr | |
| ENST00000339598.8:c.1820A>C MANE Plus Clinical | ENSP00000344521.3:p.Lys607Thr | |
| ENST00000402415.8:c.1880A>C | ENSP00000383906.4:p.Lys627Thr | |
| ENST00000272371.6:c.4121A>C | ENSP00000272371.2:p.Lys1374Thr | |
| ENST00000338581.10:c.1820A>C | ENSP00000345137.6:p.Lys607Thr | |
| ENST00000339598.7:c.1820A>C | ENSP00000344521.3:p.Lys607Thr | |
| ENST00000402415.7:c.2051A>C | ENSP00000383906.3:p.Lys684Thr | |
| ENST00000403946.7:c.4121A>C | ENSP00000385255.3:p.Lys1374Thr | |
| NM_001287489.1:c.4121A>C | NP_001274418.1:p.Lys1374Thr | |
| NM_004802.3:c.1820A>C | NP_004793.2:p.Lys607Thr | |
| NM_194248.2:c.4121A>C | NP_919224.1:p.Lys1374Thr | |
| NM_194322.2:c.2051A>C | NP_919303.1:p.Lys684Thr | |
| NM_194323.2:c.1820A>C | NP_919304.1:p.Lys607Thr | |
| XM_005264644.2:c.4106A>C | XP_005264701.1:p.Lys1369Thr | |
| XM_011533185.1:c.4166A>C | XP_011531487.1:p.Lys1389Thr | |
| XM_017005338.1:c.4061A>C | XP_016860827.1:p.Lys1354Thr | |
| NM_001287489.2:c.4121A>C | NP_001274418.1:p.Lys1374Thr | |
| NM_004802.4:c.1820A>C | NP_004793.2:p.Lys607Thr | |
| NM_194248.3:c.4121A>C MANE Select | NP_919224.1:p.Lys1374Thr | |
| NM_194322.3:c.2051A>C | NP_919303.1:p.Lys684Thr | |
| NM_194323.3:c.1820A>C MANE Plus Clinical | NP_919304.1:p.Lys607Thr |