Linked Data
dbSNP Id:
rs745350117
ExAC:
19:41518234 T / C
gnomAD v2:
19-41518234-T-C
gnomAD v3:
19-41012329-T-C
gnomAD v4:
19-41012329-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012329T>C , CM000681.2:g.41012329T>C | GRCh38 |
| NC_000019.9:g.41518234T>C , CM000681.1:g.41518234T>C | GRCh37 |
| NC_000019.8:g.46210074T>C | NCBI36 |
| NG_007929.1:g.26031T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.996T>C MANE Select | ENSP00000324648.2:p.Ile332= | |
| ENST00000598834.2:c.1020T>C | ||
| ENST00000324071.8:c.996T>C | ENSP00000324648.2:p.Ile332= | |
| ENST00000593831.1:c.288T>C | ENSP00000470582.1:p.Ile96= | |
| ENST00000597612.1:n.491T>C | ||
| NM_000767.4:c.996T>C | NP_000758.1:p.Ile332= | |
| XM_005258569.3:c.996T>C | XP_005258626.1:p.Ile332= | |
| XM_006723050.2:c.996T>C | XP_006723113.1:p.Ile332= | |
| XM_011526546.1:c.996T>C | XP_011524848.1:p.Ile332= | |
| XM_011526547.1:c.996T>C | XP_011524849.1:p.Ile332= | |
| XM_011526548.1:c.516T>C | XP_011524850.1:p.Ile172= | |
| XM_011526549.1:c.405T>C | XP_011524851.1:p.Ile135= | |
| XM_011526550.1:c.396T>C | XP_011524852.1:p.Ile132= | |
| NM_000767.5:c.996T>C MANE Select | NP_000758.1:p.Ile332= |