Linked Data
ClinVar Variation Id:
179352
dbSNP Id:
rs537971045
ExAC:
10:73550937 C / T
gnomAD v2:
10-73550937-C-T
gnomAD v3:
10-71791180-C-T
gnomAD v4:
10-71791180-C-T
COSMIC:
COSM3440289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71791180C>T , CM000672.2:g.71791180C>T | GRCh38 |
| NC_000010.10:g.73550937C>T , CM000672.1:g.73550937C>T | GRCh37 |
| NC_000010.9:g.73220943C>T | NCBI36 |
| NG_008835.1:g.399234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6098C>T MANE Select | ENSP00000224721.9:p.Ser2033Leu | |
| ENST00000224721.10:c.6113C>T | ENSP00000224721.8:p.Ser2038Leu | |
| ENST00000622827.4:c.6098C>T | ENSP00000483211.1:p.Ser2033Leu | |
| NM_022124.5:c.6098C>T | NP_071407.4:p.Ser2033Leu | |
| XM_006717940.2:c.6293C>T | XP_006718003.1:p.Ser2098Leu | |
| XM_006717942.2:c.6227C>T | XP_006718005.1:p.Ser2076Leu | |
| XM_011540039.1:c.6290C>T | XP_011538341.1:p.Ser2097Leu | |
| XM_011540040.1:c.6287C>T | XP_011538342.1:p.Ser2096Leu | |
| XM_011540041.1:c.6233C>T | XP_011538343.1:p.Ser2078Leu | |
| XM_011540042.1:c.6293C>T | XP_011538344.1:p.Ser2098Leu | |
| XM_011540043.1:c.6293C>T | XP_011538345.1:p.Ser2098Leu | |
| XM_011540044.1:c.6158C>T | XP_011538346.1:p.Ser2053Leu | |
| XM_011540045.1:c.6293C>T | XP_011538347.1:p.Ser2098Leu | |
| XM_011540046.1:c.5753C>T | XP_011538348.1:p.Ser1918Leu | |
| XM_011540047.1:c.5111C>T | XP_011538349.1:p.Ser1704Leu | |
| XM_011540048.1:c.6293C>T | XP_011538350.1:p.Ser2098Leu | |
| XM_011540049.1:c.6293C>T | XP_011538351.1:p.Ser2098Leu | |
| XM_011540050.1:c.6293C>T | XP_011538352.1:p.Ser2098Leu | |
| XM_011540051.1:c.6293C>T | XP_011538353.1:p.Ser2098Leu | |
| XM_011540052.1:c.2621C>T | XP_011538354.1:p.Ser874Leu | |
| XR_945796.1:n.6536C>T | ||
| NM_022124.6:c.6098C>T MANE Select | NP_071407.4:p.Ser2033Leu |