Linked Data
dbSNP Id:
rs753631716
ExAC:
11:9225626 A / G
gnomAD v2:
11-9225626-A-G
gnomAD v4:
11-9204079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9204079A>G , CM000673.2:g.9204079A>G | GRCh38 |
| NC_000011.9:g.9225626A>G , CM000673.1:g.9225626A>G | GRCh37 |
| NC_000011.8:g.9182202A>G | NCBI36 |
| NG_053019.1:g.66257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.530T>C MANE Select | ENSP00000328524.3:p.Met177Thr | |
| ENST00000530780.2:c.*356T>C | ENSP00000433925.1:n.*356T>C | |
| ENST00000530867.2:n.319T>C | ||
| ENST00000532696.2:n.453T>C | ||
| ENST00000679446.1:n.451T>C | ||
| ENST00000679460.1:n.319T>C | ||
| ENST00000679568.1:c.530T>C | ENSP00000505860.1:p.Met177Thr | |
| ENST00000679745.1:n.319T>C | ||
| ENST00000679999.1:c.530T>C | ENSP00000505198.1:p.Met177Thr | |
| ENST00000680252.1:c.319T>C | ||
| ENST00000680294.1:c.530T>C | ENSP00000506113.1:p.Met177Thr | |
| ENST00000680470.1:c.530T>C | ENSP00000505975.1:p.Met177Thr | |
| ENST00000680554.1:c.242T>C | ENSP00000505621.1:p.Met81Thr | |
| ENST00000680576.1:n.319T>C | ||
| ENST00000680599.1:n.447T>C | ||
| ENST00000680742.1:c.530T>C | ENSP00000505206.1:p.Met177Thr | |
| ENST00000680885.1:n.451T>C | ||
| ENST00000681158.1:c.319T>C | ||
| ENST00000681173.1:n.319T>C | ||
| ENST00000681203.1:c.458T>C | ENSP00000506456.1:p.Met153Thr | |
| ENST00000681425.1:n.451T>C | ||
| ENST00000681915.1:n.319T>C | ||
| ENST00000328194.7:c.530T>C | ENSP00000328524.3:p.Met177Thr | |
| ENST00000526707.5:c.458T>C | ENSP00000436780.1:p.Met153Thr | |
| ENST00000530044.5:c.530T>C | ENSP00000435866.1:p.Met177Thr | |
| ENST00000530780.1:c.*356T>C | ENSP00000433925.1:n.*356T>C | |
| ENST00000532696.1:n.285T>C | ||
| NM_001243254.1:c.530T>C | NP_001230183.1:p.Met177Thr | |
| NM_015213.3:c.530T>C | NP_056028.2:p.Met177Thr | |
| XM_005252832.1:c.530T>C | XP_005252889.1:p.Met177Thr | |
| XM_011519952.1:c.530T>C | XP_011518254.1:p.Met177Thr | |
| XR_242782.2:n.795T>C | ||
| XR_930851.1:n.795T>C | ||
| XR_930852.1:n.795T>C | ||
| XR_930853.1:n.795T>C | ||
| NM_001348749.1:c.458T>C | NP_001335678.1:p.Met153Thr | |
| NM_001348750.1:c.242T>C | NP_001335679.1:p.Met81Thr | |
| NR_145966.2:n.787T>C | ||
| NM_015213.4:c.530T>C MANE Select | NP_056028.2:p.Met177Thr | |
| NM_001243254.2:c.530T>C | NP_001230183.1:p.Met177Thr | |
| NM_001348749.2:c.458T>C | NP_001335678.1:p.Met153Thr | |
| NM_001348750.2:c.242T>C | NP_001335679.1:p.Met81Thr |