Linked Data
dbSNP Id:
rs772088824
ExAC:
7:128038496 G / A
gnomAD v2:
7-128038496-G-A
gnomAD v4:
7-128398442-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128398442G>A , CM000669.2:g.128398442G>A | GRCh38 |
| NC_000007.13:g.128038496G>A , CM000669.1:g.128038496G>A | GRCh37 |
| NC_000007.12:g.127825732G>A | NCBI36 |
| NG_009194.1:g.16541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.938C>T | ENSP00000265385.8:p.Thr313Ile | |
| ENST00000484496.6:n.921C>T | ||
| ENST00000338791.11:c.1046C>T MANE Select | ENSP00000345096.6:p.Thr349Ile | |
| ENST00000648462.1:c.678C>T | ||
| ENST00000338791.10:c.1046C>T | ENSP00000345096.6:p.Thr349Ile | |
| ENST00000348127.10:c.938C>T | ENSP00000265385.8:p.Thr313Ile | |
| ENST00000354269.9:c.1016C>T | ENSP00000346219.5:p.Thr339Ile | |
| ENST00000419067.6:c.947C>T | ENSP00000399400.2:p.Thr316Ile | |
| ENST00000469328.5:c.811C>T | ||
| ENST00000470772.5:c.788C>T | ENSP00000417296.1:p.Thr263Ile | |
| ENST00000480861.5:c.776C>T | ENSP00000420185.1:p.Thr259Ile | |
| ENST00000484496.5:c.921C>T | ENSP00000418742.1:n.921C>T | |
| ENST00000496200.5:c.716C>T | ENSP00000420803.1:p.Thr239Ile | |
| ENST00000497868.5:c.839C>T | ENSP00000419609.1:p.Thr280Ile | |
| ENST00000626419.2:c.788C>T | ENSP00000486056.1:p.Thr263Ile | |
| NM_000883.3:c.1046C>T | NP_000874.2:p.Thr349Ile | |
| NM_001102605.1:c.1016C>T | NP_001096075.1:p.Thr339Ile | |
| NM_001142573.1:c.791C>T | NP_001136045.1:p.Thr264Ile | |
| NM_001142574.1:c.776C>T | NP_001136046.1:p.Thr259Ile | |
| NM_001142575.1:c.716C>T | NP_001136047.1:p.Thr239Ile | |
| NM_001142576.1:c.947C>T | NP_001136048.1:p.Thr316Ile | |
| NM_001304521.1:c.839C>T | NP_001291450.1:p.Thr280Ile | |
| NM_183243.2:c.938C>T | NP_899066.1:p.Thr313Ile | |
| XM_005250314.1:c.815C>T | XP_005250371.1:p.Thr272Ile | |
| XM_006715967.1:c.1046C>T | XP_006716030.1:p.Thr349Ile | |
| XM_006715968.1:c.1016C>T | XP_006716031.1:p.Thr339Ile | |
| XM_006715969.1:c.938C>T | XP_006716032.1:p.Thr313Ile | |
| XM_006715970.2:c.839C>T | XP_006716033.1:p.Thr280Ile | |
| XM_006715971.1:c.815C>T | XP_006716034.1:p.Thr272Ile | |
| XM_011516156.1:c.428C>T | XP_011514458.1:p.Thr143Ile | |
| XM_011516157.1:c.428C>T | XP_011514459.1:p.Thr143Ile | |
| XM_017012172.1:c.815C>T | XP_016867661.1:p.Thr272Ile | |
| XM_017012173.1:c.1016C>T | XP_016867662.1:p.Thr339Ile | |
| XM_024446755.1:c.1016C>T | XP_024302523.1:p.Thr339Ile | |
| XM_024446756.1:c.938C>T | XP_024302524.1:p.Thr313Ile | |
| XM_024446757.1:c.839C>T | XP_024302525.1:p.Thr280Ile | |
| XM_024446758.1:c.815C>T | XP_024302526.1:p.Thr272Ile | |
| NM_000883.4:c.1046C>T MANE Select | NP_000874.2:p.Thr349Ile | |
| NM_001102605.2:c.1016C>T | NP_001096075.1:p.Thr339Ile | |
| NM_001142573.2:c.791C>T | NP_001136045.1:p.Thr264Ile | |
| NM_001142574.2:c.776C>T | NP_001136046.1:p.Thr259Ile | |
| NM_001142575.2:c.716C>T | NP_001136047.1:p.Thr239Ile | |
| NM_001142576.2:c.947C>T | NP_001136048.1:p.Thr316Ile | |
| NM_001304521.2:c.839C>T | NP_001291450.1:p.Thr280Ile | |
| NM_183243.3:c.938C>T | NP_899066.1:p.Thr313Ile |