Linked Data
dbSNP Id:
rs777670723
ExAC:
19:41518313 T / C
gnomAD v2:
19-41518313-T-C
gnomAD v3:
19-41012408-T-C
gnomAD v4:
19-41012408-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012408T>C , CM000681.2:g.41012408T>C | GRCh38 |
| NC_000019.9:g.41518313T>C , CM000681.1:g.41518313T>C | GRCh37 |
| NC_000019.8:g.46210153T>C | NCBI36 |
| NG_007929.1:g.26110T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1075T>C MANE Select | ENSP00000324648.2:p.Phe359Leu | |
| ENST00000598834.2:c.1099T>C | ||
| ENST00000324071.8:c.1075T>C | ENSP00000324648.2:p.Phe359Leu | |
| ENST00000593831.1:c.367T>C | ENSP00000470582.1:p.Phe123Leu | |
| ENST00000597612.1:n.570T>C | ||
| NM_000767.4:c.1075T>C | NP_000758.1:p.Phe359Leu | |
| XM_005258569.3:c.1075T>C | XP_005258626.1:p.Phe359Leu | |
| XM_006723050.2:c.1075T>C | XP_006723113.1:p.Phe359Leu | |
| XM_011526546.1:c.1075T>C | XP_011524848.1:p.Phe359Leu | |
| XM_011526547.1:c.1075T>C | XP_011524849.1:p.Phe359Leu | |
| XM_011526548.1:c.595T>C | XP_011524850.1:p.Phe199Leu | |
| XM_011526549.1:c.484T>C | XP_011524851.1:p.Phe162Leu | |
| XM_011526550.1:c.475T>C | XP_011524852.1:p.Phe159Leu | |
| NM_000767.5:c.1075T>C MANE Select | NP_000758.1:p.Phe359Leu |